ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1086A>G (p.Gln362=)

gnomAD frequency: 0.00006  dbSNP: rs750890448
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 RCV001510922 SCV001718076 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826355 SCV002092745 likely benign Leber congenital amaurosis 2021-09-13 no assertion criteria provided clinical testing

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