ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3089-6C>T

dbSNP: rs1210414674
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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 RCV001495332 SCV001700012 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003312000 SCV004011646 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing ADAMTS2: PM2, BP4

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