ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4541-18T>G

gnomAD frequency: 0.00064  dbSNP: rs111418304
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002189927 SCV002341278 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479861 SCV002796822 likely benign Sucrase-isomaltase deficiency 2021-10-21 criteria provided, single submitter clinical testing

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