ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.404-6C>G

dbSNP: rs1192551116
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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 RCV002612008 SCV003509032 likely benign Adams-Oliver syndrome 5 2022-09-22 criteria provided, single submitter clinical testing

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