ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser)

gnomAD frequency: 0.04626  dbSNP: rs16997517
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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 RCV000216230 SCV000268927 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro696Ser in exon 14 of CSF2RB: This variant is not expected to have clinical si gnificance because it has been identified in 11.4% (504/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16997517).
Labcorp Genetics (formerly Invitae), Labcorp RCV001513239 SCV001720826 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513239 SCV001833170 benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513239 SCV005277181 benign not provided criteria provided, single submitter not provided

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