ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003623402 SCV004463131 likely benign 3-Methylglutaconic aciduria type 2 2023-04-28 criteria provided, single submitter clinical testing

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