ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)

dbSNP: rs1386741882
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002201721 SCV002492727 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2022-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331331 SCV004038440 likely benign not specified 2023-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896063 SCV004712996 likely benign ADAMTS2-related disorder 2021-05-18 no assertion criteria provided 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).

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