ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.393G>A (p.Ala131=)

gnomAD frequency: 0.00071  dbSNP: rs143104828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523663 SCV001733418 benign Surfactant metabolism dysfunction, pulmonary, 4 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900777 SCV004708345 likely benign CSF2RA-related disorder 2023-08-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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