ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4268-12G>C

gnomAD frequency: 0.00033  dbSNP: rs200234624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124455 SCV002446644 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500238 SCV002810220 likely benign Sucrase-isomaltase deficiency 2021-09-01 criteria provided, single submitter clinical testing

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