ClinVar Miner

Submissions for variant NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)

gnomAD frequency: 0.00001  dbSNP: rs202153128
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197121 SCV001367757 uncertain significance Duane retraction syndrome 2 2018-12-13 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.

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