ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.826C>T (p.Arg276Trp)

gnomAD frequency: 0.00272  dbSNP: rs143587648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000974641 SCV000512748 benign not provided 2019-10-24 criteria provided, single submitter clinical testing
Invitae RCV000974641 SCV001122475 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974641 SCV001150930 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COQ9: BS2
Illumina Laboratory Services, Illumina RCV001117474 SCV001275666 likely benign Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2017-04-27 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.

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