ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.409G>A (p.Val137Ile)

gnomAD frequency: 0.00027  dbSNP: rs139268254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598087 SCV000702242 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530996 SCV003264189 likely benign Tyrosinemia type I 2024-12-14 criteria provided, single submitter clinical testing

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