ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5198-7T>C

gnomAD frequency: 0.00006  dbSNP: rs200924086
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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 RCV002198294 SCV002484757 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500424 SCV002811956 likely benign Sucrase-isomaltase deficiency 2021-10-07 criteria provided, single submitter clinical testing

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