ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=)

dbSNP: rs1554094148
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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 RCV000646246 SCV000768012 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-06-14 criteria provided, single submitter clinical testing

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