Submissions for variant NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)

gnomAD frequency: 0.00012  dbSNP: rs372570504

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725074	SCV000237764	likely benign	not provided	2019-10-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725074	SCV000333785	uncertain significance	not provided	2015-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362959	SCV002659234	likely benign	Cardiovascular phenotype	2020-08-04	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.
Clinical Genetics, Academic Medical Center	RCV000725074	SCV001917385	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725074	SCV001969052	uncertain significance	not provided		no assertion criteria provided	clinical testing