ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)

gnomAD frequency: 0.00001  dbSNP: rs564938876
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460875 SCV000555240 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420957 SCV001623435 likely benign not specified 2021-05-16 criteria provided, single submitter clinical testing
GeneDx RCV002225621 SCV002504571 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002341068 SCV002637552 likely benign Cardiovascular phenotype 2019-11-08 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.
Fulgent Genetics, Fulgent Genetics RCV002496796 SCV002806087 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002225621 SCV004150291 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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