ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4077T>C (p.His1359=)

dbSNP: rs886058142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382432 SCV000441960 uncertain significance Sucrase-isomaltase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002523251 SCV003345099 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing

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