ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr)

gnomAD frequency: 0.00006  dbSNP: rs546681307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946178 SCV001092283 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092142 SCV001248519 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001092142 SCV002028146 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Natera, Inc. RCV000946178 SCV001458870 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-10 no assertion criteria provided clinical testing

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