ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del)

dbSNP: rs1463924000
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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 RCV001975969 SCV002256638 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2022-11-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.28_51del, results in the deletion of 8 amino acid(s) of the CSF3R protein (p.Thr10_Leu17del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. ClinVar contains an entry for this variant (Variation ID: 1472359). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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