ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) (rs3741265)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000114238 SCV000306946 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361073 SCV000372630 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405990 SCV000372631 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000114238 SCV000615815 benign not specified 2011-08-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587023 SCV000697776 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The TMEM216 c.264G>A (p.Pro88Pro) variant affects a non-conserved nucleotide, resulting in a synonymous mutation. Mutation taster predicts the variant to be a polymorphism along with 5/5 in silico tools via Alamut predicting the variant not to affect splicing. This variant is found in 104584/120784 control chromosomes (45445 homozygotes) at a frequency of 0.8658763, suggesting this variant to be the ancestral allele; therefore it is classified as Benign.
Genetic Services Laboratory, University of Chicago RCV000114238 SCV000147795 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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