ClinVar Miner

Submissions for variant NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile)

gnomAD frequency: 0.00322  dbSNP: rs145392673
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Total submissions: 5
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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 RCV000419279 SCV000510761 likely benign not provided 2017-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999808 SCV000604444 benign Mitochondrial complex 1 deficiency, nuclear type 15 2019-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000419279 SCV000729255 benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Invitae RCV000419279 SCV001041372 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419279 SCV004699624 benign not provided 2024-01-01 criteria provided, single submitter clinical testing NDUFAF4: BP4, BS1, BS2

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