ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3552A>G (p.Ala1184=)

gnomAD frequency: 0.00047  dbSNP: rs144292068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698164 SCV000526418 benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556457 SCV000654334 likely benign Developmental and epileptic encephalopathy 94 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451007 SCV002617781 likely benign Inborn genetic diseases 2018-01-25 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.

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