ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.513G>T (p.Ala171=)

gnomAD frequency: 0.00008  dbSNP: rs369983319
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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 RCV000876791 SCV001019411 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-08-08 criteria provided, single submitter clinical testing
GeneDx RCV001562872 SCV001785709 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing

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