ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3634-5del

dbSNP: rs750773954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159580 SCV002335237 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498117 SCV002799313 likely benign Sucrase-isomaltase deficiency 2022-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950873 SCV004773687 likely benign SI-related disorder 2019-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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