ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1338C>T (p.Thr446=)

gnomAD frequency: 0.00003  dbSNP: rs368302072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392499 SCV000338375 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV001084455 SCV001003280 likely benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104457 SCV001261324 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001104457 SCV002094767 likely benign Bardet-Biedl syndrome 1 2020-01-23 no assertion criteria provided clinical testing

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