ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.57_58del (p.Glu20fs)

dbSNP: rs62642582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075170 SCV001240782 pathogenic Retinal dystrophy 2018-10-19 criteria provided, single submitter clinical testing
Retina International RCV000085207 SCV000117344 not provided not provided no assertion provided not provided

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