ClinVar Miner

Submissions for variant NM_001916.5(CYC1):c.226A>G (p.Met76Val)

gnomAD frequency: 0.95875  dbSNP: rs7820984
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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 RCV001661344 SCV001876463 benign Mitochondrial complex III deficiency nuclear type 6 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV002073076 SCV002408273 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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