ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) (rs34193178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180548 SCV000233012 pathogenic not provided 2013-05-13 criteria provided, single submitter clinical testing
Invitae RCV000180548 SCV001049250 likely benign not provided 2019-01-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166654 SCV001329050 uncertain significance Glucose 6 phosphate dehydrogenase deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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