ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.361C>A (p.Arg121=)

gnomAD frequency: 0.00038  dbSNP: rs371301968
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229307 SCV000288019 benign Holoprosencephaly sequence 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000254450 SCV000309875 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000229307 SCV000472616 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 RCV001812645 SCV002048945 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing

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