ClinVar Miner

Submissions for variant NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter)

dbSNP: rs2149267795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785328 SCV002026321 pathogenic Microcephalic primordial dwarfism, Alazami type 2015-11-26 criteria provided, single submitter clinical testing

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