ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.432-11_432-10insA (rs11382548)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154006 SCV000203633 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270481 SCV000372640 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325554 SCV000372641 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588729 SCV000697777 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.432-11_432-10insA variant results in insertion of a nucleotide at an intronic location that is not widely known to affect splicing. Mutation taster predicts polymorphism outcome for this variant. 4/5 splice-tools in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. This variant is found in 100404/116840 control chromosomes (43189 homozygotes) at a frequency of 0.859329, which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0038528), suggesting this variant is a benign polymorphism. In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
GeneDx RCV000154006 SCV000730167 benign not specified 2018-03-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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