ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1887+8A>C

gnomAD frequency: 0.00004  dbSNP: rs372410648
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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 RCV002139767 SCV002443131 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500228 SCV002807717 likely benign Sucrase-isomaltase deficiency 2021-11-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895919 SCV004714314 likely benign SI-related disorder 2023-07-12 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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