ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)

dbSNP: rs2540442347
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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 RCV003864238 SCV004668362 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing

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