ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4008A>G (p.Pro1336=)

gnomAD frequency: 0.00001  dbSNP: rs747858019
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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 RCV002191464 SCV002484448 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500421 SCV002805925 likely benign Sucrase-isomaltase deficiency 2021-08-20 criteria provided, single submitter clinical testing

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