Submissions for variant NM_001386125.1(OBSCN):c.5262C>T (p.Asp1754=)

gnomAD frequency: 0.00434  dbSNP: rs142188902

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000885376	SCV001028816	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004028348	SCV002640059	likely benign	not specified	2022-02-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000885376	SCV004125799	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	OBSCN: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003920638	SCV004734311	benign	OBSCN-related disorder	2019-03-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).