ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447822 SCV004175642 likely pathogenic Intellectual disability, autosomal dominant 56 2022-09-05 criteria provided, single submitter clinical testing The CLTC c.4411_4413del variant is classified as LIKELY PATHOGENIC (PS2, PM2) This CLTC c.4411_4413del variant results in an inframe deletion in exon 28/32. This variant has been identified as a de novo variant in this patient (PS2). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD.

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