ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3839del (p.Cys1280fs)

dbSNP: rs1601319594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007913 SCV001167622 uncertain significance Atrial septal defect; Congenital diaphragmatic hernia 2018-12-06 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001258022 SCV001434836 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research

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