ClinVar Miner

Submissions for variant NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)

dbSNP: rs1433125500
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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 RCV001707924 SCV002499761 likely pathogenic Boudin-Mortier syndrome 2022-03-18 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Boudin-Mortier syndrome, autosomal recessive. 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); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3).
OMIM RCV001707924 SCV001934615 pathogenic Boudin-Mortier syndrome 2023-11-28 no assertion criteria provided literature only

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