ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.447C>T (p.His149=)

gnomAD frequency: 0.00005  dbSNP: rs576678571
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 RCV000911852 SCV001056932 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832054 SCV002090112 likely benign Leber congenital amaurosis 2020-06-06 no assertion criteria provided clinical testing

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