ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1670-7G>T

gnomAD frequency: 0.00001  dbSNP: rs1242028632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001467042 SCV001671058 likely benign Adams-Oliver syndrome 5 2024-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770159 SCV005381724 likely benign not specified 2025-04-28 criteria provided, single submitter clinical testing

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