ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)

dbSNP: rs779659766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515489 SCV000787491 likely pathogenic Kleefstra syndrome 2 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Kleefstra syndrome 2, 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. PVS1-Moderate => PVS1 downgraded in strength to Moderate. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:29069077).
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004730969 SCV005044933 pathogenic KMT2C-related NDD criteria provided, single submitter research
OMIM RCV000515489 SCV000611574 pathogenic Kleefstra syndrome 2 2017-11-14 no assertion criteria provided literature only

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