ClinVar Miner

Submissions for variant NM_001317778.2(SFTPC):c.*174G>A

gnomAD frequency: 0.26088  dbSNP: rs1139547
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314169 SCV000473045 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272766 SCV000473046 benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314169 SCV000473049 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272766 SCV000473050 benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264445 SCV000484326 benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264445 SCV000484328 benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160358 SCV001322154 benign Surfactant metabolism dysfunction, pulmonary, 2 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.
Breakthrough Genomics, Breakthrough Genomics RCV004712560 SCV005266625 benign not provided criteria provided, single submitter not provided

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