ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)

gnomAD frequency: 0.00022  dbSNP: rs200573274
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 RCV001051385 SCV001215537 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275661 SCV001460953 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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