Submissions for variant NM_001317778.2(SFTPC):c.436-26C>G

gnomAD frequency: 0.28233  dbSNP: rs2070687

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151857	SCV000200334	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	436-8C>G in intron 4 of SFTPC: This variant is not expected to have clinical sig nificance because it has been identified in 29.9% (1206/4034) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2070687).
PreventionGenetics, part of Exact Sciences	RCV000151857	SCV000309341	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344147	SCV000473017	benign	Interstitial lung disease 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390443	SCV000473018	benign	Pulmonary Surfactant Metabolism Dysfunction, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352001	SCV000484321	benign	Osteogenesis Imperfecta, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160262	SCV001322051	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	RCV001682868	SCV001898179	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001682868	SCV002397306	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682868	SCV005266620	benign	not provided		criteria provided, single submitter	not provided