ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1607-5C>A

gnomAD frequency: 0.00081  dbSNP: rs372869012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518016 SCV000614230 benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951754 SCV001098183 benign not provided 2020-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000518016 SCV001159882 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000951754 SCV002035318 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000951754 SCV002036596 likely benign not provided no assertion criteria provided clinical testing

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