ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)

gnomAD frequency: 0.01345  dbSNP: rs151058706
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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 RCV000155475 SCV000205168 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro142Leu in exon 7 of CSF2RA: This variant is not expected to have clinical sig nificance because it has been identified in 4.8% (210/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs151058706).
Labcorp Genetics (formerly Invitae), Labcorp RCV000545726 SCV000647039 benign Surfactant metabolism dysfunction, pulmonary, 4 2024-01-29 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000545726 SCV000925938 benign Surfactant metabolism dysfunction, pulmonary, 4 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV001551063 SCV001771489 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001551063 SCV005207887 likely benign not provided criteria provided, single submitter not provided

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