ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.635C>T (p.Ala212Val)

gnomAD frequency: 0.00293  dbSNP: rs143104068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909486 SCV001054296 benign not provided 2024-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000909486 SCV001791491 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003950704 SCV004762607 benign H6PD-related disorder 2019-11-12 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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