ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=)

gnomAD frequency: 0.00817  dbSNP: rs36084504
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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 RCV000253284 SCV000314292 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553515 SCV000636893 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001545192 SCV001764471 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545192 SCV005261578 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253284 SCV001978435 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253284 SCV001980392 benign not specified no assertion criteria provided clinical testing

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