ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln)

dbSNP: rs1230076038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581745 SCV001042039 likely benign Developmental and epileptic encephalopathy 94 2024-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000897869 SCV003919646 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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