ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1830C>T (p.Val610=)

gnomAD frequency: 0.00001  dbSNP: rs139680551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980112 SCV001128061 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832275 SCV002081604 likely benign Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-02-12 no assertion criteria provided clinical testing

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