ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4586+10C>T

gnomAD frequency: 0.00009  dbSNP: rs760225110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001450101 SCV001653698 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489123 SCV002798879 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000456384 SCV001807164 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000456384 SCV001965358 likely benign not provided no assertion criteria provided clinical testing

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