ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.886A>C (p.Arg296=)

gnomAD frequency: 0.00001  dbSNP: rs1399365841
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914685 SCV001059869 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832063 SCV002092755 likely benign Leber congenital amaurosis 2020-03-31 no assertion criteria provided clinical testing

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