ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)

gnomAD frequency: 0.00001  dbSNP: rs773571672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525662 SCV000659467 benign Adams-Oliver syndrome 5 2023-11-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335845 SCV001529088 uncertain significance Aortic valve disease 1 2018-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000525662 SCV002553324 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001335845 SCV002553326 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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