ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.424-4C>A

dbSNP: rs113085050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872880 SCV001014768 benign Sengers syndrome; Cataract 38 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001547607 SCV001767355 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001547607 SCV005226839 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004538318 SCV004754308 likely benign AGK-related disorder 2019-06-03 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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