ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro)

gnomAD frequency: 0.00001  dbSNP: rs1265388422
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 RCV005094204 SCV005824435 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251864 SCV001427609 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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