ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.1874C>T (p.Ser625Phe)

gnomAD frequency: 0.00001  dbSNP: rs560156832
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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 RCV000979651 SCV001127596 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335289 SCV001528406 uncertain significance Surfactant metabolism dysfunction, pulmonary, 5 2018-05-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003962945 SCV004777500 likely benign CSF2RB-related disorder 2023-11-07 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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