ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.154-9del

dbSNP: rs568965659
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676279 SCV001785223 likely benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493117 SCV002799121 likely benign Mitochondrial complex 1 deficiency, nuclear type 5 2021-09-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676279 SCV000802035 benign not provided 2017-08-22 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700445 SCV001921960 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001700445 SCV001963476 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700445 SCV002037630 benign not specified no assertion criteria provided clinical testing

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