ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7933C>T (p.Leu2645=)

gnomAD frequency: 0.00012  dbSNP: rs61730553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575712 SCV001802761 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421212 SCV002677370 likely benign Inborn genetic diseases 2019-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV003232384 SCV002795334 likely benign Sotos syndrome 2022-04-24 criteria provided, single submitter clinical testing

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