ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1410G>A (p.Ala470=)

gnomAD frequency: 0.00135  dbSNP: rs3917988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253633 SCV000305510 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540765 SCV000656826 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000253633 SCV002064963 likely benign not specified 2020-12-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699088 SCV001926913 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699088 SCV001966431 likely benign not provided no assertion criteria provided clinical testing

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