ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5049A>G (p.Leu1683=)

gnomAD frequency: 0.00007  dbSNP: rs199658617
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 RCV002109707 SCV002393446 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499988 SCV002809263 likely benign Sucrase-isomaltase deficiency 2022-03-09 criteria provided, single submitter clinical testing

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