ClinVar Miner

Submissions for variant NM_001041.4(SI):c.876C>T (p.Phe292=)

gnomAD frequency: 0.00070  dbSNP: rs139642816
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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 RCV002101901 SCV002439254 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486927 SCV002795678 likely benign Sucrase-isomaltase deficiency 2022-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903470 SCV004726579 likely benign SI-related disorder 2021-12-08 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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