ClinVar Miner

Submissions for variant NM_001041.4(SI):c.484-8C>G

gnomAD frequency: 0.00056  dbSNP: rs201820421
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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 RCV001451194 SCV001654820 likely benign not provided 2025-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501587 SCV002808239 likely benign Sucrase-isomaltase deficiency 2022-02-03 criteria provided, single submitter clinical testing

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