ClinVar Miner

Submissions for variant NM_021120.4(DLG3):c.429C>T (p.Phe143=)

gnomAD frequency: 0.00123  dbSNP: rs144225009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195222 SCV000247191 uncertain significance not specified 2015-02-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000195222 SCV000336894 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314801 SCV000849394 benign Inborn genetic diseases 2017-04-18 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 RCV000906967 SCV001051638 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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