ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.*328A>G

gnomAD frequency: 0.52005  dbSNP: rs1059310
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263668 SCV000430405 benign Noonan syndrome 4 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.
Illumina Laboratory Services, Illumina RCV000297792 SCV000430406 benign Fibromatosis, gingival, 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001691959 SCV001913188 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000263668 SCV002763172 benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000297792 SCV002763173 benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001691959 SCV005240006 benign not provided criteria provided, single submitter not provided

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