ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)

gnomAD frequency: 0.00004  dbSNP: rs368005198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593166 SCV000707468 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622141 SCV000735674 likely benign Cardiovascular phenotype 2016-12-16 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 RCV001087059 SCV001008494 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-12 criteria provided, single submitter clinical testing

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