Submissions for variant NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)

gnomAD frequency: 0.00088  dbSNP: rs150508296

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724863	SCV000226801	uncertain significance	not provided	2015-05-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364298	SCV000376941	uncertain significance	Cutis laxa, recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000724863	SCV000527506	likely benign	not provided	2020-09-23	criteria provided, single submitter	clinical testing
Invitae	RCV001087624	SCV001023381	benign	ALG9 congenital disorder of glycosylation	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000724863	SCV001143084	benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724863	SCV001502155	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	ATP6V0A2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003907567	SCV004720280	likely benign	ATP6V0A2-related condition	2019-06-21	criteria provided, single submitter	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).