ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.96C>T (p.Asp32=)

gnomAD frequency: 0.00003  dbSNP: rs751728017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440007 SCV000515718 likely benign not specified 2017-11-14 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 RCV000555751 SCV000646908 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2022-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449051 SCV004181936 likely benign Dilated cardiomyopathy 1D 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449052 SCV004181947 likely benign Cardiomyopathy, familial restrictive, 3 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449050 SCV004181958 likely benign Hypertrophic cardiomyopathy 2 2023-11-04 criteria provided, single submitter clinical testing

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