ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)

gnomAD frequency: 0.00121  dbSNP: rs139534358
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711191 SCV000526048 benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085465 SCV000563089 benign Developmental and epileptic encephalopathy 94 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711191 SCV000841522 benign not provided 2018-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318448 SCV000851109 likely benign Inborn genetic diseases 2016-07-28 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 RCV000711191 SCV004130962 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CHD2: BP4, BP7, BS1

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