ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.738-20A>G

gnomAD frequency: 0.00019  dbSNP: rs200128097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514667 SCV000610373 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514667 SCV002452016 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing

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