ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg)

gnomAD frequency: 0.00015  dbSNP: rs142876168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530990 SCV000636897 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529492 SCV001743040 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529492 SCV001799762 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702502 SCV001928741 benign not specified no assertion criteria provided clinical testing

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