ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.177G>A (p.Pro59=)

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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 RCV005146629 SCV005780697 likely benign 3-Methylglutaconic aciduria type 2 2024-02-29 criteria provided, single submitter clinical testing

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