ClinVar Miner

Submissions for variant NM_022765.4(MICAL1):c.1599G>A (p.Leu533=)

gnomAD frequency: 0.00219  dbSNP: rs142979809
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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 RCV002128995 SCV002460774 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500265 SCV002807695 likely benign Epilepsy, familial temporal lobe, 1 2021-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002128995 SCV004159959 benign not provided 2022-04-01 criteria provided, single submitter clinical testing MICAL1: BS1, BS2

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