ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln)

gnomAD frequency: 0.00052  dbSNP: rs199652942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001421531 SCV001624056 likely benign Nemaline myopathy 5 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953773 SCV004777395 likely benign TNNT1-related condition 2020-02-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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