ClinVar Miner

Submissions for variant NM_001041.4(SI):c.807+8A>G

gnomAD frequency: 0.00005  dbSNP: rs759240554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198034 SCV002353133 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486826 SCV002802558 likely benign Sucrase-isomaltase deficiency 2022-04-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002198034 SCV005262900 likely benign not provided criteria provided, single submitter not provided

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