ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.826+4T>C

gnomAD frequency: 0.00013  dbSNP: rs369930157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000761920 SCV000725063 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315928 SCV000848119 likely benign Inborn genetic diseases 2022-06-07 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 RCV000761920 SCV000892145 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing CHD2: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001082364 SCV001001205 benign Developmental and epileptic encephalopathy 94 2025-01-15 criteria provided, single submitter clinical testing

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