ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Functional Genomics, Research Centre for Medical Genetics RCV003157997 SCV003837584 likely pathogenic Stickler syndrome type 1 criteria provided, single submitter clinical testing Variant NM_001844.5:c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC was found by whole genome sequencing in affected mother and her affected daughter. This variant is absent in control databases. Additionally, minigene assay revealed exon 13 skipping. Summary, obtained data allow to interpretate this variant as likely pathogenic (ACMG PM2, PP3, PS3, PP4).

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