ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=)

gnomAD frequency: 0.02137  dbSNP: rs3795666
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248037 SCV000314296 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000534145 SCV000636909 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001528999 SCV001828571 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528999 SCV001741705 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000248037 SCV001917632 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248037 SCV001967298 benign not specified no assertion criteria provided clinical testing

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