ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=)

gnomAD frequency: 0.02286  dbSNP: rs1801116
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Total submissions: 4
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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 RCV000219900 SCV000268928 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro800Pro in exon 14 of CSF2RB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.8% (245/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1801116).
Labcorp Genetics (formerly Invitae), Labcorp RCV001512819 SCV001720304 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001512819 SCV001766089 likely benign not provided 2020-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512819 SCV005206392 likely benign not provided criteria provided, single submitter not provided

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