ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.628-8C>G

dbSNP: rs4601607
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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 RCV000892897 SCV001036804 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957984 SCV004776211 likely benign H6PD-related disorder 2022-01-27 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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