ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1199-12T>A

dbSNP: rs1474100681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599559 SCV000710745 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing The c.1199-12T>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1199-12T>A variant is not observed in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1199-12T>A may damage or destroy the natural splice acceptor site in intron 11 and lead to abnormal gene splicing. However, in the absence of RNA studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003741198 SCV004387246 likely benign Developmental and epileptic encephalopathy 94 2023-09-21 criteria provided, single submitter clinical testing

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