ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=)

dbSNP: rs567635584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001434617 SCV001637427 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279681 SCV002565701 uncertain significance Ehlers-Danlos syndrome 2019-08-01 criteria provided, single submitter clinical testing

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