ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=)

gnomAD frequency: 0.17147  dbSNP: rs6685892
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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 RCV000251156 SCV000314297 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251156 SCV000339995 benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV001514563 SCV001722438 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711834 SCV001940886 benign not provided 2019-09-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000251156 SCV001923852 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000251156 SCV001973103 benign not specified no assertion criteria provided clinical testing

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