ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn)

gnomAD frequency: 0.01316  dbSNP: rs117805308
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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 RCV000214171 SCV000268932 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Asp312Asn in exon 8 of CSF2RB: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (176/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs117805308).
Labcorp Genetics (formerly Invitae), Labcorp RCV001520217 SCV001729278 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001520217 SCV002575933 likely benign not provided 2022-07-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV001520217 SCV005277166 benign not provided criteria provided, single submitter not provided

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