ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)

gnomAD frequency: 0.00004  dbSNP: rs1402048390
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 RCV000812365 SCV000952676 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2025-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000812365 SCV001463009 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-24 no assertion criteria provided clinical testing

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