ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) (rs11555096)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174220 SCV000225485 other not provided 2018-07-30 criteria provided, single submitter clinical testing
GeneReviews RCV000020125 SCV000040447 pathologic Tyrosinemia type I 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000020125 SCV000631825 other Tyrosinemia type I 2018-12-26 criteria provided, single submitter clinical testing
OMIM RCV000012643 SCV000032878 pathogenic Fumarylacetoacetase pseudodeficiency 1994-12-01 no assertion criteria provided literature only

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