ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)

gnomAD frequency: 0.00003  dbSNP: rs566113559
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436318 SCV000528905 likely benign not specified 2016-06-22 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.
Color Diagnostics, LLC DBA Color Health RCV001187367 SCV001354141 likely benign Cardiomyopathy 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV001861577 SCV002237914 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449063 SCV004181312 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449064 SCV004181313 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449062 SCV004181314 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing

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