ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1132+9C>A

dbSNP: rs1196360635
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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 RCV001986897 SCV002277683 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-11-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276977 SCV002565656 uncertain significance Ehlers-Danlos syndrome 2020-12-03 criteria provided, single submitter clinical testing

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