ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3719-7C>T

gnomAD frequency: 0.00006  dbSNP: rs374419613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001579331 SCV003451692 likely benign not provided 2022-08-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579331 SCV001806828 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579331 SCV001973415 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001579331 SCV002035764 likely benign not provided no assertion criteria provided clinical testing

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