ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.1047-8G>A

gnomAD frequency: 0.00001  dbSNP: rs1396305653
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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 RCV003790314 SCV004579432 likely benign Sengers syndrome; Cataract 38 2023-07-20 criteria provided, single submitter clinical testing

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