ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15906C>T (p.Val5302=)

gnomAD frequency: 0.00099  dbSNP: rs375179152
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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 RCV000039879 SCV000063570 benign not specified 2012-01-24 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000039879 SCV000114329 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000039879 SCV000516618 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.
Invitae RCV000459807 SCV000555160 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039879 SCV000616004 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170870 SCV001333491 benign Cardiomyopathy 2018-04-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001811282 SCV002049792 benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839500 SCV002100051 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839501 SCV002100052 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839502 SCV002100053 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839499 SCV002100054 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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