Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines.

Xi LuoJamie L MaciaszekBryony A ThompsonHuei San LeongKatherine DixonSónia SousaMichael AndersonMaegan E RobertsKristy LeeAmanda B Spurdle Arjen R MensenkampTerra BrannanCarolina PardoZarina YelskayaTina PesaranSainan WeiGrace-Ann FasayeChimene KesserwanBrian H ShirtsJeremy L DavisCarla OliveiraSharon E PlonKasmintan A Schrader Rachid Karamnull null

Published in: Journal of medical genetics (2022)

specific criteria by the expert panel resulted in decreased uncertain and conflicting interpretations of variants in this clinically actionable gene, which can ultimately lead to more effective clinical management recommendations.

Keyphrases

clinical practice
copy number
healthcare
palliative care
genome wide
quality improvement
transcription factor
gene expression
oxidative stress
chronic pain