ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.6G>A (p.Ala2=) (rs397516361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036311 SCV000059963 likely benign not specified 2009-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000036311 SCV000209153 benign not specified 2014-09-22 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 RCV000866578 SCV001007692 likely benign Hypertrophic cardiomyopathy 2020-04-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV001192354 SCV001360402 likely benign Cardiomyopathy 2020-02-09 criteria provided, single submitter clinical testing

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