ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.*9G>A

gnomAD frequency: 0.08526  dbSNP: rs2229236
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155479 SCV000205172 benign not specified 2013-02-21 criteria provided, single submitter clinical testing *9G>A in exon 14 of CSF2RA: This variant is not expected to have clinical signif icance because it has been identified in 27.2% (1198/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs141486727).
Institute of Human Genetics, University of Leipzig Medical Center RCV001262878 SCV001440912 benign Surfactant metabolism dysfunction, pulmonary, 4 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001618312 SCV001842894 benign not provided 2019-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618312 SCV005277565 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917531 SCV004736117 benign CSF2RA-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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