ClinVar Miner

Submissions for variant NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)

gnomAD frequency: 0.52633  dbSNP: rs6447368
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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 RCV001702047 SCV001934054 benign Developmental and epileptic encephalopathy, 40 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077171 SCV002401234 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002077171 SCV005299569 benign not provided criteria provided, single submitter not provided

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