ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2502C>T (p.Ala834=)

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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 RCV005190554 SCV005821467 likely benign Adams-Oliver syndrome 5 2024-05-29 criteria provided, single submitter clinical testing

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