ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.960G>A (p.Glu320=)

gnomAD frequency: 0.00065  dbSNP: rs144207494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560414 SCV000629259 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263762 SCV002543347 likely benign Autoinflammatory syndrome 2021-11-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000560414 SCV003919763 likely benign Pityriasis rubra pilaris; Psoriasis 2 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.09% (15/15282) (https://gnomad.broadinstitute.org/variant/17-80189869-G-A?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Likely Benign or Benign (Variation ID:458110). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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