ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)

gnomAD frequency: 0.00001  dbSNP: rs1192399919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481885 SCV001686243 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826314 SCV002090169 likely benign Leber congenital amaurosis 2021-09-05 no assertion criteria provided clinical testing

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