ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2505+4A>G

dbSNP: rs767309501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486886 SCV000571360 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001491870 SCV001696474 likely benign Developmental and epileptic encephalopathy 94 2021-04-10 criteria provided, single submitter clinical testing

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