ClinVar Miner

Submissions for variant NM_001317778.2(SFTPC):c.43-7G>A

gnomAD frequency: 0.00861  dbSNP: rs79440568
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350319 SCV000472997 likely benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400766 SCV000472998 likely benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732367 SCV000860319 likely benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000968120 SCV001115554 benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001007607 SCV001167291 benign Surfactant metabolism dysfunction, pulmonary, 2 2019-09-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001007607 SCV001321940 likely benign Surfactant metabolism dysfunction, pulmonary, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000968120 SCV002504236 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002328880 SCV002633016 benign Hereditary pulmonary alveolar proteinosis 2014-06-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV000968120 SCV005222818 likely benign not provided criteria provided, single submitter not provided

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