ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.854C>T (p.Ala285Val)

gnomAD frequency: 0.00002  dbSNP: rs544867753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612999 SCV000719411 likely benign not specified 2017-05-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001034094 SCV001197419 benign Developmental and epileptic encephalopathy 94 2024-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530777 SCV004713901 likely benign CHD2-related disorder 2020-12-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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