ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.183del (p.Met63fs) (rs62643608)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000133332 SCV000188341 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues
RettBASE RCV000170012 SCV000222319 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues
RettBASE RCV000170013 SCV000222320 pathogenic Autistic disorder of childhood onset 2014-03-13 no assertion criteria provided curation Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues

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