ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6259-8A>T

gnomAD frequency: 0.00008  dbSNP: rs370529039
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231306 SCV000194244 uncertain significance Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV003231306 SCV000749477 likely benign Sotos syndrome 2022-10-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003231306 SCV000782190 uncertain significance Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231306 SCV002055029 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573705 SCV001799970 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726001 SCV001963771 benign not specified no assertion criteria provided clinical testing

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