ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.424-5C>A

dbSNP: rs113599212
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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 RCV001487051 SCV001691534 likely benign Sengers syndrome; Cataract 38 2024-05-08 criteria provided, single submitter clinical testing

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