ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His)

gnomAD frequency: 0.00717  dbSNP: rs3917996
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249800 SCV000305512 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545875 SCV000656829 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-29 criteria provided, single submitter clinical testing

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