ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs)

dbSNP: rs1943078129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269558 SCV001449626 pathogenic not provided 2015-10-26 criteria provided, single submitter clinical testing

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