ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1254T>C (p.Arg418=)

gnomAD frequency: 0.28603  dbSNP: rs3917980
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243703 SCV000305508 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243703 SCV000538742 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001523641 SCV001733392 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001523641 SCV001876368 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714569 SCV005285165 benign not provided criteria provided, single submitter not provided

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