ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.378G>A (p.Leu126=) (rs2298806)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247494 SCV000314362 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262515 SCV000373261 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000709660 SCV000677145 benign Bardet-Biedl syndrome 1 2017-06-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589192 SCV000699515 benign not provided 2016-11-15 criteria provided, single submitter clinical testing Variant summary: The BBS1 c.378G>A (p.Leu126Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a polymorphism outcome for this variant along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant was found in 27024/121032 control chromosomes (3285 homozygotes) at a frequency of 0.2232798, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic BBS1 variant (0.0009449), suggesting this variant is likely a benign polymorphism. A clinical diagnostic laboratory and at least one publication classified this variant as benign. Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709660 SCV000744898 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000589192 SCV001000097 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709660 SCV000733085 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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