ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.726C>T (p.Ala242=)

gnomAD frequency: 0.01333  dbSNP: rs3918017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245189 SCV000305514 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548558 SCV000656838 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713445 SCV005285612 benign not provided criteria provided, single submitter not provided

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