ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.51C>T (p.Ala17=)

gnomAD frequency: 0.00002  dbSNP: rs937454854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932460 SCV001078142 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272457 SCV001454452 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-03-17 no assertion criteria provided clinical testing

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