Submissions for variant NM_001386125.1(OBSCN):c.20169C>T (p.Asp6723=)

gnomAD frequency: 0.00531  dbSNP: rs142093978

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003762869	SCV000885866	benign	Rhabdomyolysis, susceptibility to, 1	2023-10-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000757577	SCV001025358	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004027146	SCV002715637	likely benign	not specified	2022-02-12	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	RCV000757577	SCV004126007	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	OBSCN: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000757577	SCV005284115	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003938141	SCV004755475	benign	OBSCN-related disorder	2019-08-28	no assertion criteria provided	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).