ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1230T>C (p.Gly410=)

gnomAD frequency: 0.00001  dbSNP: rs1334956674
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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 RCV001402028 SCV001603870 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-11-24 criteria provided, single submitter clinical testing

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