ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)

gnomAD frequency: 0.01932  dbSNP: rs309369
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242032 SCV000316229 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242032 SCV000342669 likely benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094777 SCV000447407 benign Bardet-Biedl syndrome 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000369341 SCV000759892 benign Bardet-Biedl syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001706391 SCV001895963 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20498079)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000242032 SCV002051032 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706391 SCV005256136 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001094777 SCV001462010 benign Bardet-Biedl syndrome 12 2020-09-16 no assertion criteria provided clinical testing

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