ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.514G>A (p.Val172Ile)

gnomAD frequency: 0.00016  dbSNP: rs141970914
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247277 SCV000311382 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000247277 SCV000595092 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083538 SCV000775633 likely benign Kostmann syndrome 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083538 SCV001257433 benign Kostmann syndrome 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.
UniProtKB/Swiss-Prot RCV000059079 SCV000090600 not provided not provided no assertion provided not provided

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