ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.485+18C>T

dbSNP: rs1421627142
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002184517 SCV002490775 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-02 criteria provided, single submitter clinical testing

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