ClinVar Miner

Submissions for variant NM_017775.4(TTC19):c.*226T>C

gnomAD frequency: 0.01995  dbSNP: rs73981412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001126829 SCV001286077 likely benign Mitochondrial complex III deficiency nuclear type 2 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.
GeneDx RCV001724253 SCV001950918 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001126829 SCV002807276 likely benign Mitochondrial complex III deficiency nuclear type 2 2021-10-08 criteria provided, single submitter clinical testing

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