ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5935-11C>T

gnomAD frequency: 0.00002  dbSNP: rs768074148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002121689 SCV002448866 benign Adams-Oliver syndrome 5 2022-10-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738152 SCV004564256 likely benign not provided 2022-12-20 criteria provided, single submitter clinical testing

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