ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.772-8A>G

gnomAD frequency: 0.00001  dbSNP: rs398124473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082503 SCV000114545 uncertain significance not provided 2013-08-13 criteria provided, single submitter clinical testing
Invitae RCV000082503 SCV001040470 likely benign not provided 2018-01-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807039 SCV002054171 likely benign Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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