ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)

gnomAD frequency: 0.00013  dbSNP: rs138580383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842231 SCV000984233 likely benign not provided 2018-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001276587 SCV001646017 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892771 SCV004712728 likely benign ADAMTS2-related condition 2021-02-01 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. RCV001276587 SCV001462997 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-06-13 no assertion criteria provided clinical testing

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