ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.150T>C (p.Phe50=)

gnomAD frequency: 0.00016  dbSNP: rs186471906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840129 SCV000982046 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Invitae RCV001086865 SCV001013858 likely benign Tyrosinemia type I 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086865 SCV001276670 uncertain significance Tyrosinemia type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001086865 SCV002089819 likely benign Tyrosinemia type I 2017-05-15 no assertion criteria provided clinical testing

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