ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=)

gnomAD frequency: 0.00001  dbSNP: rs768036305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943957 SCV001089916 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279652 SCV002565690 uncertain significance Ehlers-Danlos syndrome 2021-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000943957 SCV002084231 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-03-31 no assertion criteria provided clinical testing

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