ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1218C>T (p.Asn406=)

gnomAD frequency: 0.00152  dbSNP: rs151296973
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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 RCV001513189 SCV001720756 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501777 SCV002807160 likely benign Sucrase-isomaltase deficiency 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931069 SCV004743300 likely benign SI-related disorder 2019-06-10 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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