ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.873+62C>T

gnomAD frequency: 0.57943  dbSNP: rs4965296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549239 SCV001769354 benign Weill-Marchesani 4 syndrome, recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001725229 SCV001960617 benign not provided 2018-09-06 criteria provided, single submitter clinical testing

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