ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1163-12del

gnomAD frequency: 0.01006  dbSNP: rs147787116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198525 SCV000251929 benign not specified 2012-11-28 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224915 SCV000281351 likely benign not provided 2015-09-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224915 SCV001719953 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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