ClinVar Miner

Submissions for variant NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala)

gnomAD frequency: 0.92663  dbSNP: rs8100724
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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 RCV002245191 SCV002514170 benign Mitochondrial complex 3 deficiency, nuclear type 10 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004719005 SCV005314246 benign not provided criteria provided, single submitter not provided

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