ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.81+22A>G

gnomAD frequency: 0.35797  dbSNP: rs1864506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543940 SCV001762841 benign Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655851 SCV001869724 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655851 SCV005304219 benign not provided criteria provided, single submitter not provided

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