ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4765+18C>T

dbSNP: rs751340849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003232064 SCV000782182 likely benign Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003232064 SCV003311192 likely benign Sotos syndrome 2022-06-11 criteria provided, single submitter clinical testing

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