ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.654C>A (p.Gly218=)

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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 RCV003074437 SCV003454532 likely benign Sengers syndrome; Cataract 38 2022-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536562 SCV004720185 likely benign AGK-related disorder 2019-08-13 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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