ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.975+151T>A

gnomAD frequency: 0.47156  dbSNP: rs1862212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543837 SCV001762711 benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655847 SCV001868907 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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