ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2970-7del

dbSNP: rs34868738
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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 RCV002129698 SCV002410566 benign Adams-Oliver syndrome 5 2022-08-16 criteria provided, single submitter clinical testing

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