ClinVar Miner

Submissions for variant NM_003018.3(SFTPC):c.-134G>C

gnomAD frequency: 0.06596  dbSNP: rs28438700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392960 SCV000472981 benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311642 SCV000472982 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346624 SCV000484318 likely benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158818 SCV001320479 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.
GeneDx RCV001653736 SCV001866969 benign not provided 2018-07-15 criteria provided, single submitter clinical testing

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