ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2289G>A (p.Gly763=)

dbSNP: rs1481867581
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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 RCV001500374 SCV001705160 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2020-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921049 SCV004730543 likely benign CSF3R-related disorder 2020-08-04 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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