ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1512+25G>A

gnomAD frequency: 0.57954  dbSNP: rs9290256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807592 SCV002055222 benign Sucrase-isomaltase deficiency 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716836 SCV005306199 benign not provided criteria provided, single submitter not provided

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