ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1098G>A (p.Ser366=)

gnomAD frequency: 0.00137  dbSNP: rs35033541
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597301 SCV000702832 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000597301 SCV000731015 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000872851 SCV001014734 benign Tyrosinemia type I 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872851 SCV001276770 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV003403390 SCV004137494 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FAH: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003945386 SCV004763313 likely benign FAH-related disorder 2021-03-30 criteria provided, single submitter 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).
Natera, Inc. RCV000872851 SCV001456964 uncertain significance Tyrosinemia type I 2020-04-24 no assertion criteria provided clinical testing

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