ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=)

gnomAD frequency: 0.00007  dbSNP: rs182103023
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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 RCV000531147 SCV000647121 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001553393 SCV001774253 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000531147 SCV005671633 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751594 SCV005351166 likely benign ADAMTS2-related disorder 2024-08-29 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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