ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=)

gnomAD frequency: 0.00001  dbSNP: rs747336695
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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 RCV001409877 SCV001611911 likely benign Adams-Oliver syndrome 5 2022-03-24 criteria provided, single submitter clinical testing

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