ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.*1014_*1019del

dbSNP: rs11277519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268852 SCV000389864 benign Weill-Marchesani 4 syndrome, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268852 SCV000389866 uncertain significance Weill-Marchesani 4 syndrome, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001698761 SCV001916893 benign not provided 2021-05-08 criteria provided, single submitter clinical testing

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