ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1746A>G (p.Leu582=)

gnomAD frequency: 0.00006  dbSNP: rs550119977
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 RCV001429688 SCV001632405 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831486 SCV002090146 likely benign Leber congenital amaurosis 2021-07-28 no assertion criteria provided clinical testing

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