ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106974C>T (p.Ser35658=)

gnomAD frequency: 0.00012  dbSNP: rs761795663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556350 SCV000642605 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618771 SCV000735326 likely benign Cardiovascular phenotype 2016-02-24 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404650 SCV006066839 benign not specified 2025-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005404650 SCV006072396 likely benign not specified 2025-03-06 criteria provided, single submitter clinical testing

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