ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.311G>T (p.Gly104Val)

dbSNP: rs61752875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001588914 SCV001815984 likely pathogenic Leber congenital amaurosis 2 2021-06-22 criteria provided, single submitter clinical testing
Retina International RCV000085193 SCV000117330 not provided not provided no assertion provided not provided

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