ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.268C>T (p.Arg90Trp) (rs104894673)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074643 SCV001240235 likely pathogenic Retinal dystrophy 2019-02-06 criteria provided, single submitter clinical testing
OMIM RCV000007847 SCV000028052 pathogenic Leber congenital amaurosis 7 1999-02-01 no assertion criteria provided literature only
Retina International RCV000086364 SCV000118510 not provided not provided no assertion provided not provided

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