ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val)

gnomAD frequency: 0.00001  dbSNP: rs752754662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002573256 SCV003249133 benign Adams-Oliver syndrome 5 2022-09-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579814 SCV001808601 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579814 SCV001972890 likely benign not provided no assertion criteria provided clinical testing

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