ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)

dbSNP: rs571054777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001274077 SCV001621130 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274077 SCV001457816 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-03-10 no assertion criteria provided clinical testing

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