ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41427C>T (p.Asp13809=)

gnomAD frequency: 0.00002  dbSNP: rs776002330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434860 SCV001637674 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395997 SCV002697366 likely benign Cardiovascular phenotype 2019-02-05 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.

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