ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.913+8G>A

gnomAD frequency: 0.00001  dbSNP: rs1245028497
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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 RCV001486810 SCV001691289 likely benign Tyrosinemia type I 2024-04-01 criteria provided, single submitter clinical testing

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