ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=)

gnomAD frequency: 0.00010  dbSNP: rs531768193
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937786 SCV001083579 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000937786 SCV002084207 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-06-29 no assertion criteria provided clinical testing

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