Submissions for variant NM_003098.3(SNTA1):c.114C>T (p.Asp38=)

gnomAD frequency: 0.00003  dbSNP: rs780018849

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000619484	SCV000737708	likely benign	Cardiovascular phenotype	2016-09-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631855	SCV000752952	likely benign	Long QT syndrome	2024-07-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001526917	SCV001737673	benign	not specified	2021-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001595027	SCV001828967	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001595027	SCV005208604	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001526917	SCV001920491	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001595027	SCV001928469	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001595027	SCV001971158	likely benign	not provided		no assertion criteria provided	clinical testing