ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.201C>T (p.Leu67=) (rs375273894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000277029 SCV000403123 uncertain significance Severe congenital neutropenia 2016-06-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768226 SCV000898721 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2018-02-05 criteria provided, single submitter clinical testing G6PC3 NM_138387.3 exon 1 p.Leu67Leu (c.201C>T): This variant has not been reported in the literature but is present in 6/111326 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs375273894). This variant is present in ClinVar (Variation ID:323461). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000977522 SCV001125439 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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