ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1587G>A (p.Pro529=)

gnomAD frequency: 0.00021  dbSNP: rs531422962
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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 RCV002193405 SCV002488002 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486988 SCV002801069 likely benign Sucrase-isomaltase deficiency 2021-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002193405 SCV004148610 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SI: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003903589 SCV004718588 likely benign SI-related disorder 2019-07-30 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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