ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54222T>C (p.Val18074=)

gnomAD frequency: 0.00003  dbSNP: rs568765317
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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 RCV001455436 SCV001659196 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434058 SCV002744883 likely benign Cardiovascular phenotype 2020-02-07 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 RCV005240644 SCV005887021 likely benign not specified 2025-01-27 criteria provided, single submitter clinical testing

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