ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.738T>G (p.Pro246=)

dbSNP: rs2142101669
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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 RCV001494945 SCV001699612 likely benign Tyrosinemia type I 2024-08-21 criteria provided, single submitter clinical testing

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