ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.849G>A (p.Gln283=)

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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 RCV005206274 SCV005844941 likely benign 3-Methylglutaconic aciduria type 2 2025-01-08 criteria provided, single submitter clinical testing

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