ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1155G>A (p.Thr385=) (rs62653014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666107 SCV000790349 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000085153 SCV001021784 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Retina International RCV000085153 SCV000117290 not provided not provided no assertion provided not provided

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