ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.657T>C (p.Phe219=)

gnomAD frequency: 0.97657  dbSNP: rs1111820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241192 SCV001716788 benign Autosomal dominant epilepsy with auditory features 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509885 SCV001981346 benign Epilepsy, familial temporal lobe, 1 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718837 SCV005324003 benign not provided criteria provided, single submitter not provided

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