ClinVar Miner

Submissions for variant NM_001916.5(CYC1):c.772+19_772+20del

gnomAD frequency: 0.85101  dbSNP: rs200379271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661345 SCV001876464 benign Mitochondrial complex III deficiency nuclear type 6 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001673232 SCV001886821 benign not provided 2018-06-28 criteria provided, single submitter clinical testing

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