ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1647C>T (p.His549=)

dbSNP: rs2113223410
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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 RCV001483605 SCV001687999 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-03-16 criteria provided, single submitter clinical testing

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