ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.774_780+10dup

dbSNP: rs377345813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005208581 SCV000647042 benign Surfactant metabolism dysfunction, pulmonary, 4 2025-01-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604731 SCV000731985 benign not specified 2017-11-02 criteria provided, single submitter clinical testing c.774_780+10dup in intron 9 of CSF2RA: This variant is not expected to have clin ical significance because it has been identified in 4.1% (976/24018) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs770360117), including 19 homozygous individuals. ACMG/AMP Crit eria applied: BA1.
Eurofins Ntd Llc (ga) RCV000604731 SCV000860941 likely benign not specified 2018-05-05 criteria provided, single submitter clinical testing

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