ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=)

gnomAD frequency: 0.00006  dbSNP: rs763792775
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 RCV001452009 SCV001655655 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001452009 SCV002081921 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-05-01 no assertion criteria provided clinical testing

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