ClinVar Miner

Submissions for variant NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys)

gnomAD frequency: 0.00201  dbSNP: rs137995316
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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 RCV000514308 SCV000610586 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765812 SCV000897202 uncertain significance Mitochondrial complex III deficiency nuclear type 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514308 SCV001022731 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000765812 SCV001529513 uncertain significance Mitochondrial complex III deficiency nuclear type 4 2018-09-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003937746 SCV004748794 likely benign UQCRQ-related disorder 2019-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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