ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1865-16C>A

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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 RCV003755727 SCV004500384 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2023-03-03 criteria provided, single submitter clinical testing

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