ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.795T>C (p.Phe265=)

gnomAD frequency: 0.00001  dbSNP: rs886038568
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242572 SCV000311384 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478378 SCV001682648 likely benign Kostmann syndrome 2023-08-14 criteria provided, single submitter clinical testing

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