ClinVar Miner

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

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Total submissions: 11
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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
Invitae RCV000020125 SCV000631825 other Tyrosinemia type I 2018-12-26 criteria provided, single submitter clinical testing
Mendelics RCV000020125 SCV001139660 benign Tyrosinemia type I 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020125 SCV001273303 likely benign Tyrosinemia type I 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Nilou-Genome Lab RCV000020125 SCV001653435 likely benign Tyrosinemia type I 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000174220 SCV001755981 benign not provided 2018-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29326876, 27153395, 27535533, 25087612, 25333069, 21228398, 7977370, 11278491)
OMIM RCV000012643 SCV000032878 pathogenic Fumarylacetoacetase pseudodeficiency 1994-12-01 no assertion criteria provided literature only
GeneReviews RCV000020125 SCV000040447 pathologic Tyrosinemia type I 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000174220 SCV001739753 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000174220 SCV001808405 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701723 SCV001928625 benign not specified no assertion criteria provided clinical testing

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