ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.207C>T (p.Asn69=)

gnomAD frequency: 0.00001  dbSNP: rs1302750453
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 RCV001444407 SCV001647406 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832569 SCV002090105 likely benign Leber congenital amaurosis 2021-07-15 no assertion criteria provided clinical testing

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