ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=)

gnomAD frequency: 0.00001  dbSNP: rs747864683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508284 SCV001714338 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564238 SCV003262937 likely benign Adams-Oliver syndrome 5 2022-07-27 criteria provided, single submitter clinical testing

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