ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3588G>T (p.Val1196=)

gnomAD frequency: 0.00003  dbSNP: rs549662786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703720 SCV000522525 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231478 SCV001632449 likely benign Sotos syndrome 2020-02-18 criteria provided, single submitter clinical testing

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