ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.700-5C>T

gnomAD frequency: 0.00001  dbSNP: rs782731479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208291 SCV000264236 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-01-08 criteria provided, single submitter clinical testing
Invitae RCV000927936 SCV001073536 likely benign 3-Methylglutaconic aciduria type 2 2022-02-05 criteria provided, single submitter clinical testing

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