ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)

dbSNP: rs150268140
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083676 SCV000286960 benign Developmental and epileptic encephalopathy 94 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000245432 SCV000307174 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245432 SCV000523405 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000711184 SCV000841515 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315692 SCV000847640 likely benign Inborn genetic diseases 2016-07-15 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.
Genetic Services Laboratory, University of Chicago RCV000245432 SCV002071230 benign not specified 2019-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711184 SCV002545317 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CHD2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV001083676 SCV002799015 likely benign Developmental and epileptic encephalopathy 94 2022-05-23 criteria provided, single submitter clinical testing

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