ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.93C>A (p.Asp31Glu)

gnomAD frequency: 0.00090  dbSNP: rs141481210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718821 SCV000512750 benign not provided 2019-09-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23814038)
Illumina Laboratory Services, Illumina RCV001125643 SCV001284736 likely benign Leigh syndrome 2017-05-31 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001125644 SCV001284737 uncertain significance Cytochrome-c oxidase deficiency disease 2017-05-31 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.
Invitae RCV001718821 SCV002380420 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950347 SCV004774165 benign COX10-related condition 2019-08-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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