ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.443T>C (p.Val148Ala)

gnomAD frequency: 0.00001  dbSNP: rs758591202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001280044 SCV002780657 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2022-03-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481048 SCV004226937 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001280044 SCV001467191 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-08-14 no assertion criteria provided clinical testing

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