ClinVar Miner

Submissions for variant NM_000411.8(HLCS):c.834C>T (p.Ser278=) (rs1065758)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078724 SCV000110584 benign not specified 2013-01-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078724 SCV000304070 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330589 SCV000436051 likely benign Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078724 SCV000151395 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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