ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.715A>T (p.Ile239Phe)

gnomAD frequency: 0.00012  dbSNP: rs144228661
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323250 SCV000344608 likely benign not specified 2017-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872523 SCV001014347 likely benign Tyrosinemia type I 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872523 SCV001280571 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV003480577 SCV004227449 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing BS1, PP3
Natera, Inc. RCV000872523 SCV001454947 uncertain significance Tyrosinemia type I 2017-11-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003957516 SCV004769351 likely benign FAH-related disorder 2021-03-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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