ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.126C>T (p.Asp42=)

gnomAD frequency: 0.00003  dbSNP: rs373120801
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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 RCV001446411 SCV001649457 likely benign Tyrosinemia type I 2024-02-26 criteria provided, single submitter clinical testing

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