ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3888+19C>T

gnomAD frequency: 0.72200  dbSNP: rs2290738
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511845 SCV001719154 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511845 SCV001863656 benign not provided 2021-02-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807401 SCV002055220 benign Sucrase-isomaltase deficiency 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511845 SCV005304272 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529920 SCV001744242 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529920 SCV001954164 benign not specified no assertion criteria provided clinical testing

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