ClinVar Miner

Submissions for variant NM_152416.4(NDUFAF6):c.420+15dup

dbSNP: rs34960210
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676860 SCV001093290 benign not provided 2019-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000676860 SCV001756629 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779054 SCV002016102 benign Fanconi renotubular syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779053 SCV002016103 benign Mitochondrial complex 1 deficiency, nuclear type 17 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499194 SCV002804536 benign Mitochondrial complex 1 deficiency, nuclear type 17; Fanconi renotubular syndrome 5 2022-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676860 SCV000802672 benign not provided 2016-02-16 no assertion criteria provided clinical testing

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