ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1968T>C (p.Ser656=)

gnomAD frequency: 0.42981  dbSNP: rs8048410
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339245 SCV000395413 benign Saldino-Mainzer syndrome 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.
GeneDx RCV000117257 SCV000728720 benign not specified 2017-09-13 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000339245 SCV000745492 benign Saldino-Mainzer syndrome 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000339245 SCV001723357 benign Saldino-Mainzer syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544457 SCV001763505 benign Retinitis pigmentosa 80 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000339245 SCV001763506 benign Saldino-Mainzer syndrome 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888511 SCV004705007 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004714443 SCV005297157 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117257 SCV000151431 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000339245 SCV000733497 benign Saldino-Mainzer syndrome no assertion criteria provided clinical testing

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