ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.222G>C (p.Val74=)

dbSNP: rs2127463467
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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 RCV002183278 SCV002423025 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-10-28 criteria provided, single submitter clinical testing

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