ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.642G>A (p.Glu214=)

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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 RCV003517565 SCV004246333 likely benign Tyrosinemia type I 2023-11-10 criteria provided, single submitter clinical testing

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