ClinVar Miner

Submissions for variant NM_003120.3(SPI1):c.722T>G (p.Val241Gly)

dbSNP: rs2095906404
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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 RCV002260124 SCV002540186 likely pathogenic Agammaglobulinemia 10, autosomal dominant 2022-06-22 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Agammaglobulinemia 10, 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); Assumed de novo, but without confirmation of paternity and maternity (PM6); 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).
Neil Romberg Laboratory, Children's Hospital of Philadelphia RCV001172538 SCV001134083 pathogenic PU.1-mutated agammaglobulinemia 2019-12-10 no assertion criteria provided research

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