ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)

dbSNP: rs1601319598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001003398 SCV001432976 pathogenic CEBALID syndrome 2020-07-29 criteria provided, single submitter curation This variant is interpreted as Pathogenic for CEBALID syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1); Protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4); De novo (paternity and maternity confirmed) (PS2).
OMIM RCV001003398 SCV001161685 pathogenic CEBALID syndrome 2020-02-14 no assertion criteria provided literature only

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