ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)

gnomAD frequency: 0.00022  dbSNP: rs138673583
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313496 SCV000848498 likely benign Inborn genetic diseases 2018-01-17 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.
CeGaT Center for Human Genetics Tuebingen RCV000762245 SCV000892532 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231606 SCV001596953 likely benign Sotos syndrome 2022-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000762245 SCV001861089 benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231606 SCV002054858 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003231606 SCV002810720 likely benign Sotos syndrome 2021-09-09 criteria provided, single submitter clinical testing

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