ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5712C>T (p.Pro1904=)

gnomAD frequency: 0.00005  dbSNP: rs756321444
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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 RCV000252642 SCV000314074 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231423 SCV001003422 benign Sotos syndrome 2022-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001683109 SCV001900193 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231423 SCV002054880 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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