ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1245G>A (p.Glu415=)

gnomAD frequency: 0.00002  dbSNP: rs768028742
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579497 SCV001807466 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579497 SCV001930542 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579497 SCV001974687 likely benign not provided no assertion criteria provided clinical testing

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