ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.53+14C>T

gnomAD frequency: 0.00834  dbSNP: rs115683875
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250814 SCV007344617 benign not specified 2026-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000383726 SCV005877824 benign Kostmann syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001610667 SCV001832992 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000383726 SCV001724067 benign Kostmann syndrome 2026-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383726 SCV000348476 benign Kostmann syndrome 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.
PreventionGenetics, part of Exact Sciences RCV000250814 SCV000311383 likely benign not specified criteria provided, single submitter clinical testing

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