ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)

dbSNP: rs774130993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001588015 SCV001821975 uncertain significance Retinitis pigmentosa 20 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588014 SCV001822086 uncertain significance Leber congenital amaurosis 2 2021-07-22 criteria provided, single submitter clinical testing

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