ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3972A>G (p.Pro1324=)

gnomAD frequency: 0.00116  dbSNP: rs142838806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152081 SCV002412433 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480963 SCV002803382 likely benign Sucrase-isomaltase deficiency 2021-10-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002480963 SCV003823206 uncertain significance Sucrase-isomaltase deficiency 2019-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903433 SCV004721588 likely benign SI-related disorder 2023-09-19 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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