ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.1270G>A (p.Ala424Thr)

gnomAD frequency: 0.00105  dbSNP: rs114271603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273397 SCV002558140 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002273397 SCV003273205 likely benign not provided 2024-08-02 criteria provided, single submitter clinical testing

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