ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)

gnomAD frequency: 0.00006  dbSNP: rs748339634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516799 SCV000614300 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002254701 SCV002526131 likely benign Stroke disorder 2022-06-13 criteria provided, single submitter clinical testing ACMG categories: BP4,BP6,BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000516799 SCV001807335 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000516799 SCV001967266 likely benign not provided no assertion criteria provided clinical testing

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