ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)

dbSNP: rs1057518829
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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 RCV001199353 SCV001370452 pathogenic Congenital stationary night blindness 2A 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in hemizygous state. The following ACMG criteria were used in classification PVS1, PM2, PM3_MOD.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415143 SCV000492682 likely pathogenic Myopia; Amblyopia 2016-01-11 no assertion criteria provided clinical testing

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