ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2367C>T (p.Asn789=)

dbSNP: rs946096806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788891 SCV000928174 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001503730 SCV001708588 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2023-11-12 criteria provided, single submitter clinical testing

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