ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)

gnomAD frequency: 0.00021  dbSNP: rs546990509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763961 SCV002000195 uncertain significance not provided 2020-10-21 criteria provided, single submitter clinical testing 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
Fulgent Genetics, Fulgent Genetics RCV002503222 SCV002812295 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-07-28 criteria provided, single submitter clinical testing

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