ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.1943C>T (p.Pro648Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143372 SCV003828681 uncertain significance Surfactant metabolism dysfunction, pulmonary, 5 2021-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003239323 SCV003937398 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.1943C>T (p.P648L) alteration is located in exon 14 (coding exon 13) of the CSF2RB gene. This alteration results from a C to T substitution at nucleotide position 1943, causing the proline (P) at amino acid position 648 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004750869 SCV005352777 likely benign CSF2RB-related disorder 2024-09-10 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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