ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)

dbSNP: rs376058580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000268209 SCV000333223 uncertain significance not provided 2015-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000268209 SCV000969269 likely benign not provided 2020-12-24 criteria provided, single submitter clinical testing
Invitae RCV001084525 SCV001091356 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084525 SCV001458866 benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-11-22 no assertion criteria provided clinical testing

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