ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.520del (p.Ala174fs) (rs797044807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190244 SCV000243768 pathogenic Spondyloocular syndrome, autosomal recessive 2015-06-04 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000190244 SCV001133161 pathogenic Spondyloocular syndrome, autosomal recessive 2019-09-26 no assertion criteria provided clinical testing

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