ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)

gnomAD frequency: 0.00001  dbSNP: rs753338844
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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 RCV000664042 SCV000787450 likely pathogenic Bardet-Biedl syndrome 6 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Bardet-Biedl syndrome 6, Autosomal Recessive 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. PP1-Moderate => PP1 upgraded in strength to Moderate (PMID:28761321).
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003222088 SCV003915864 pathogenic Bardet-Biedl syndrome criteria provided, single submitter research

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