ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2901G>T (p.Gly967=)

gnomAD frequency: 0.00002  dbSNP: rs773815247
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 RCV000944269 SCV001090235 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271901 SCV001453395 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing

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