ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)

gnomAD frequency: 0.00131  dbSNP: rs143236410
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318452 SCV000340174 benign not specified 2016-03-17 criteria provided, single submitter clinical testing
Invitae RCV000526120 SCV000636908 likely benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001529982 SCV001832991 benign not provided 2020-06-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30487145, 28776642, 24448499)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529982 SCV001744405 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529982 SCV001798108 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529982 SCV001970156 likely benign not provided no assertion criteria provided clinical testing

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