ClinVar Miner

Submissions for variant NM_001863.4(COX6B1):c.-145G>A

gnomAD frequency: 0.09679  dbSNP: rs10420252
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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 RCV000269405 SCV000411530 likely benign Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001539117 SCV001756861 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539117 SCV005206984 likely benign not provided criteria provided, single submitter not provided

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