ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.*565del

dbSNP: rs886060446
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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 RCV003231456 SCV000456553 uncertain significance Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281826 SCV000456554 uncertain significance Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing

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