ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4999G>A (p.Val1667Ile)

dbSNP: rs142018224
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001514877 SCV001722831 benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488326 SCV002795908 likely benign Sucrase-isomaltase deficiency 2021-07-09 criteria provided, single submitter clinical testing

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