ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) (rs368345612)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development,UConn Health Center RCV000515786 SCV000538196 pathogenic Keloid formation 2017-04-03 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515786 SCV001197903 likely pathogenic Keloid formation no assertion criteria provided research

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