ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)

dbSNP: rs753886912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196462 SCV001367070 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2019-03-18 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560222 SCV002960442 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001196462 SCV003831995 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2020-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002560222 SCV004129016 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing CHD8: PP2

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