ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)

gnomAD frequency: 0.01634  dbSNP: rs7833404
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125151 SCV000168591 benign not specified 2014-01-17 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 RCV000226517 SCV000288018 benign Holoprosencephaly sequence 2024-01-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000125151 SCV000309873 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000125151 SCV000341581 benign not specified 2016-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000226517 SCV000472604 benign Holoprosencephaly sequence 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812048 SCV000603756 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125151 SCV003929340 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125151 SCV001956898 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125151 SCV001974426 benign not specified no assertion criteria provided clinical testing

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