ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.*13C>T (rs141170836)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243914 SCV000314804 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370033 SCV000398044 likely benign Bardet-Biedl syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Integrated Genetics/Laboratory Corporation of America RCV000586782 SCV000699651 benign not provided 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The BBS2 c.*13C>T variant involves the alteration of a non-conserved nucleotide located in 3-prime untranslated region of exon 17. Mutation taster predicts a benign outcome for this variant. This variant was found in 1175/118352 control chromosomes (including 35 homozygotes), predominantly observed in the Latino subpopulation at a frequency of 0.077996 (872/11180). This frequency is about 92 times the estimated maximal expected allele frequency of a pathogenic BBS2 variant (0.0008452), suggesting this is a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign/benign. Taken together, this variant is classified as Benign.

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