ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3634-14A>T

gnomAD frequency: 0.00046  dbSNP: rs199634091
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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 RCV002142575 SCV002448927 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500231 SCV002806485 likely benign Sucrase-isomaltase deficiency 2021-08-05 criteria provided, single submitter clinical testing

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