ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) (rs201215425)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372697 SCV000456842 uncertain significance Ehlers-Danlos syndrome, type vii, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000372697 SCV000768010 likely benign Ehlers-Danlos syndrome, type vii, autosomal recessive 2017-11-04 criteria provided, single submitter clinical testing

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