ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=)

gnomAD frequency: 0.00004  dbSNP: rs766033559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697922 SCV000725286 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000968449 SCV001115901 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-04-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701701 SCV005204616 likely benign not specified 2024-06-19 criteria provided, single submitter clinical testing

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