ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr)

dbSNP: rs543859669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278379 SCV001677006 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276674 SCV002565879 uncertain significance Ehlers-Danlos syndrome 2021-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278379 SCV001465388 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-08-20 no assertion criteria provided clinical testing

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