ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)

dbSNP: rs2133314462
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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 RCV003749018 SCV004535237 likely benign Adams-Oliver syndrome 5 2023-01-30 criteria provided, single submitter clinical testing

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