ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2618-20G>A

gnomAD frequency: 0.00003  dbSNP: rs756658312
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002087347 SCV002326473 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-12-18 criteria provided, single submitter clinical testing

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