ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5623-22G>A

gnomAD frequency: 0.04787  dbSNP: rs79098301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247684 SCV000314073 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711730 SCV001944937 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231422 SCV002054879 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711730 SCV005222557 likely benign not provided criteria provided, single submitter not provided

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