ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.136+21_136+22del

dbSNP: rs763637617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197471 SCV001368224 uncertain significance Acrokeratosis verruciformis of Hopf 2019-05-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP4.
Invitae RCV002069283 SCV002446412 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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