ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1102T>C (p.Leu368=)

gnomAD frequency: 0.00029  dbSNP: rs142843314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891379 SCV001035195 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950391 SCV004765513 likely benign GFM1-related disorder 2020-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001272462 SCV001454461 likely benign Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-04-23 no assertion criteria provided clinical testing

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