ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.3131A>G (p.Gln1044Arg)

gnomAD frequency: 0.00328  dbSNP: rs79255785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000888773 SCV000724598 likely benign not provided 2020-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888773 SCV001032426 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755987 SCV005344950 benign DIAPH3-related disorder 2024-09-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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