ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5304-1G>C

dbSNP: rs863224905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV003231402 SCV000255431 likely pathogenic Sotos syndrome 2014-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231402 SCV001580138 pathogenic Sotos syndrome 2021-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231402 SCV002054948 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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