ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu)

gnomAD frequency: 0.00031  dbSNP: rs370464322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698195 SCV000532432 benign not provided 2019-12-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564305)
Labcorp Genetics (formerly Invitae), Labcorp RCV000553635 SCV000654311 likely benign Developmental and epileptic encephalopathy 94 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698195 SCV004130935 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CHD2: BS2
PreventionGenetics, part of Exact Sciences RCV004533103 SCV004711146 likely benign CHD2-related disorder 2024-03-12 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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