ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63210T>C (p.Asn21070=)

dbSNP: rs200578829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718998 SCV000724621 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430567 SCV001633309 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678760 SCV005180553 likely benign Cardiovascular phenotype 2024-05-21 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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