ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)

dbSNP: rs371609982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rui Chen Lab, Baylor College of Medicine RCV000515718 SCV000579430 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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