ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.403G>A (p.Glu135Lys)

dbSNP: rs2149303071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002254102 SCV002525353 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31785789)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005235644 SCV005881438 likely pathogenic Neurodevelopmental abnormality 2024-06-20 criteria provided, single submitter clinical testing PS1_Supporting, PS4_Moderate, PM1_Supporting, PM2

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