ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=)

dbSNP: rs1581140577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442166 SCV001645110 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001442166 SCV002081924 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-24 no assertion criteria provided clinical testing

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