ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) (rs772995852)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000522877 SCV000616354 pathogenic COFFIN-SIRIS SYNDROME 6 2017-12-14 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000522877 SCV000883239 likely pathogenic COFFIN-SIRIS SYNDROME 6 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Coffin-siris syndrome 6, 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-Moderate => PVS1 downgraded in strength to Moderate. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/26238514).

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