ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)

gnomAD frequency: 0.00001  dbSNP: rs761050391
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184180 SCV000236800 likely benign not specified 2017-03-16 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000184180 SCV000713221 likely benign not specified 2019-01-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000642927 SCV000764614 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997342 SCV001152625 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170527 SCV001333110 likely benign Cardiomyopathy 2018-02-01 criteria provided, single submitter clinical testing

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