ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.231G>A (p.Glu77=)

gnomAD frequency: 0.00004  dbSNP: rs779179784
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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 RCV002090595 SCV002375647 likely benign Leber congenital amaurosis 12 2023-05-01 criteria provided, single submitter clinical testing

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