ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys)

gnomAD frequency: 0.00002  dbSNP: rs771456995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003231445 SCV000456455 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404571 SCV000456456 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090572 SCV001006611 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing

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