ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.1176G>C (p.Ala392=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002848081 SCV003229952 likely benign Sengers syndrome; Cataract 38 2022-08-19 criteria provided, single submitter clinical testing

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