ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.27C>G (p.Leu9=)

gnomAD frequency: 0.00001  dbSNP: rs1422526202
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437494 SCV001640348 likely benign Adams-Oliver syndrome 5 2022-03-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323879 SCV004029512 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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