ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)

gnomAD frequency: 0.00013  dbSNP: rs61754844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878531 SCV001021452 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001655637 SCV001871158 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001655637 SCV004158140 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ADAMTS2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955778 SCV004774304 likely benign ADAMTS2-related condition 2019-07-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000878531 SCV002081898 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-02-01 no assertion criteria provided clinical testing

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