ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1323+72A>G

gnomAD frequency: 0.10832  dbSNP: rs2291594
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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 RCV001543946 SCV001762848 benign Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001619959 SCV001844846 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619959 SCV005304235 benign not provided criteria provided, single submitter not provided

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