ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.185-3208C>T

gnomAD frequency: 0.00007  dbSNP: rs140944590
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169963 SCV000715714 likely benign not specified 2017-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001493882 SCV001698524 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-12-18 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004724969 SCV005335228 likely benign CDKL5 disorder 2024-09-19 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). Synonymous or intronic variant outside donor and acceptor splice regions for NM_001323289.2 where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7)
RettBASE RCV000169963 SCV000222264 benign not specified 2014-03-13 no assertion criteria provided curation

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