ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3001G>A (p.Asp1001Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435677 SCV002750783 benign Inborn genetic diseases 2020-06-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005098382 SCV005824309 benign not provided 2024-09-23 criteria provided, single submitter clinical testing

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