ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)

gnomAD frequency: 0.00001  dbSNP: rs774346043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418483 SCV001620712 likely benign Cornelia de Lange syndrome 1 2024-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531417 SCV001746498 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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