ClinVar Miner

Submissions for variant NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) (rs1554504681)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000585816 SCV000693805 likely pathogenic Rett syndrome 2018-01-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000656374 SCV000883196 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Epileptic encephalopathy, early infantile, 64, 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. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29276004). PM5 => Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (PubMed 29276004 and 29768694) (https://www.ncbi.nlm.nih.gov/pubmed/29276004).
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090302 SCV001245755 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
OMIM RCV000656374 SCV000778375 pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 2018-06-04 no assertion criteria provided literature only

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