ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.*1014dup

gnomAD frequency: 0.00005  dbSNP: rs886060448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003231458 SCV000456561 uncertain significance Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402644 SCV000456562 uncertain significance Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing

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