ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)

gnomAD frequency: 0.00026  dbSNP: rs142721501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001400579 SCV001602384 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001558958 SCV001781005 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963277 SCV004778474 likely benign ADAMTS2-related disorder 2023-07-21 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. RCV001400579 SCV002084223 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-03 no assertion criteria provided clinical testing

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