ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) (rs779864368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991400 SCV001142795 likely pathogenic Spondyloocular syndrome, autosomal recessive 2019-06-20 criteria provided, single submitter clinical testing

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