ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys)

dbSNP: rs1554123906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522690 SCV000620480 uncertain significance not provided 2024-09-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Pars Genome Lab RCV001526417 SCV001736757 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-05-18 criteria provided, single submitter clinical testing

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