ClinVar Miner

Submissions for variant NM_001041.4(SI):c.885T>C (p.Phe295=)

gnomAD frequency: 0.00044  dbSNP: rs141754766
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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 RCV000969462 SCV001116984 likely benign not provided 2024-07-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503059 SCV002802001 likely benign Sucrase-isomaltase deficiency 2021-09-20 criteria provided, single submitter clinical testing

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