ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)

gnomAD frequency: 0.00003  dbSNP: rs370722609
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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 RCV000228959 SCV000290308 benign Adams-Oliver syndrome 5 2022-12-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788485 SCV000927621 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228959 SCV002555208 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270062 SCV002555210 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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