ClinVar Miner

Submissions for variant NM_001200.4(BMP2):c.79G>T (p.Glu27Ter)

dbSNP: rs1555785715
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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 RCV000584741 SCV000883150 likely pathogenic Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease (https://www.ncbi.nlm.nih.gov/pubmed/29198724).
OMIM RCV001800810 SCV000692449 pathogenic Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 2021-02-15 no assertion criteria provided literature only

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