Submissions for variant NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)

dbSNP: rs149660944

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000890550	SCV001034301	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000162277	SCV001141044	uncertain significance	Peeling skin syndrome type A	2019-05-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000890550	SCV001712978	uncertain significance	not provided	2019-04-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000890550	SCV004145395	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	CHST8: BP4, BS2
OMIM	RCV000162277	SCV000212257	uncertain significance	Peeling skin syndrome type A	2012-04-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003917553	SCV004737255	likely benign	CHST8-related disorder	2021-05-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).