ClinVar Miner

Submissions for variant NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)

dbSNP: rs953298656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169884 SCV001251843 pathogenic Geleophysic dysplasia 1 2020-05-03 criteria provided, single submitter clinical testing

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