ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)

gnomAD frequency: 0.00004  dbSNP: rs142275705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803095 SCV000942954 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001561956 SCV001784649 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000803095 SCV001458863 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-24 no assertion criteria provided clinical testing

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