ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)

gnomAD frequency: 0.00001  dbSNP: rs587784175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231295 SCV000194233 likely pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231295 SCV003246890 likely benign Sotos syndrome 2022-10-19 criteria provided, single submitter clinical testing

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