ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1245del (p.Thr416fs)

dbSNP: rs606231474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000234853 SCV000292050 pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2014-06-12 no assertion criteria provided literature only

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