ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99954C>T (p.Asp33318=)

gnomAD frequency: 0.00001  dbSNP: rs765089470
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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 RCV001503689 SCV001708547 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384848 SCV002672748 likely benign Cardiovascular phenotype 2019-07-02 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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