ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82485C>T (p.Asp27495=)

gnomAD frequency: 0.00004  dbSNP: rs72648213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560154 SCV000643760 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275086 SCV002563621 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Ambry Genetics RCV002350291 SCV002653688 likely benign Cardiovascular phenotype 2022-03-23 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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