ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18531G>C (p.Val6177=)

gnomAD frequency: 0.00088  dbSNP: rs370684491
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039909 SCV000063600 benign not specified 2012-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039909 SCV000114333 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000039909 SCV000516616 benign not specified 2016-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000472261 SCV000555462 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000039909 SCV000616010 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811286 SCV002048483 benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839520 SCV002099976 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839521 SCV002099977 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839522 SCV002099978 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839519 SCV002099980 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039909 SCV005885372 likely benign not specified 2025-02-24 criteria provided, single submitter clinical testing

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