ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) (rs796052242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000519953 SCV000616352 pathogenic COFFIN-SIRIS SYNDROME 6 2017-12-14 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000519953 SCV000883207 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-Strong => PVS1 downgraded in strength to Strong.

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