ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)

gnomAD frequency: 0.00005  dbSNP: rs201872547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001093956 SCV000373271 likely benign Bardet-Biedl syndrome 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000345204 SCV000563593 benign Bardet-Biedl syndrome 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001093956 SCV002094752 benign Bardet-Biedl syndrome 1 2020-01-15 no assertion criteria provided clinical testing

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