ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.381G>A (p.Glu127=)

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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 RCV003042420 SCV003328010 likely benign Leber congenital amaurosis 12 2024-01-17 criteria provided, single submitter clinical testing

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