ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) (rs1553193507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000656524 SCV000778533 pathogenic Hajdu-Cheney syndrome 2018-03-27 criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000656524 SCV000787498 likely pathogenic Hajdu-Cheney syndrome 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Hajdu-cheney syndrome, Autosomal Dominant inheritance. 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. PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:21378989).

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