ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.123G>C (p.Gly41=)

dbSNP: rs1057521590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428456 SCV000523712 likely benign not specified 2016-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062605 SCV002393511 likely benign Kostmann syndrome 2021-10-04 criteria provided, single submitter clinical testing

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