ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.401C>A (p.Ala134Asp)

dbSNP: rs121965074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012641 SCV000793184 likely pathogenic Tyrosinemia type I 2017-07-31 criteria provided, single submitter clinical testing
OMIM RCV000012641 SCV000032876 pathogenic Tyrosinemia type I 1993-07-01 no assertion criteria provided literature only

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