ClinVar Miner

Submissions for variant NM_021044.4(DHH):c.174C>A (p.Gly58=)

gnomAD frequency: 0.00001  dbSNP: rs376829299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002164777 SCV002333486 likely benign 46,XY sex reversal 7 2022-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958504 SCV004766660 likely benign DHH-related disorder 2019-07-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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