ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.585G>A (p.Pro195=)

gnomAD frequency: 0.00003  dbSNP: rs371325259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697991 SCV000723746 likely benign not provided 2018-12-28 criteria provided, single submitter clinical testing
Invitae RCV000869732 SCV001011183 likely benign Developmental and epileptic encephalopathy 94 2023-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697991 SCV002497820 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CHD2: BP4, BP7

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