ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.708G>C (p.Gln236His)

gnomAD frequency: 0.00004  dbSNP: rs28932175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224323 SCV000280767 likely benign not provided 2016-04-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224323 SCV001909795 benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231408 SCV002054837 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231408 SCV003522611 benign Sotos syndrome 2022-06-24 criteria provided, single submitter clinical testing

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