ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73212C>T (p.Ser24404=)

gnomAD frequency: 0.00001  dbSNP: rs754332135
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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 RCV001489205 SCV001693742 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334517 SCV002635449 likely benign Cardiovascular phenotype 2021-04-20 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235577 SCV003934079 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing

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