ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.75G>A (p.Pro25=)

gnomAD frequency: 0.00004  dbSNP: rs199529021
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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 RCV000879241 SCV001022259 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275341 SCV001460416 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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