ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu)

gnomAD frequency: 0.00241  dbSNP: rs180724802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245904 SCV000309879 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000467626 SCV000472619 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467626 SCV000560612 benign Holoprosencephaly sequence 2024-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001753722 SCV001988366 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing Identified in a patient with a congenital heart defect in published literature (Roessler et al., 2008); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18538293)

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