ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys)

gnomAD frequency: 0.00001  dbSNP: rs746144524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926714 SCV002200200 likely benign Adams-Oliver syndrome 5 2024-07-23 criteria provided, single submitter clinical testing

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