ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1671G>C (p.Leu557=)

gnomAD frequency: 0.06374  dbSNP: rs11548967
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114212 SCV000170283 benign not specified 2013-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000114212 SCV000312933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333453 SCV000404269 benign Meckel syndrome, type 1 2018-01-12 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.
Illumina Laboratory Services, Illumina RCV000369432 SCV000404270 benign Bardet-Biedl syndrome 13 2018-01-12 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 RCV000860459 SCV001000518 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369432 SCV001754709 benign Bardet-Biedl syndrome 13 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000333453 SCV001754710 benign Meckel syndrome, type 1 2021-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709246 SCV005250591 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114212 SCV000147765 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000333453 SCV001455364 benign Meckel syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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