ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.95-2A>T (rs61751279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668398 SCV000792991 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-07-25 criteria provided, single submitter clinical testing
Retina International RCV000085232 SCV000117369 not provided not provided no assertion provided not provided

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