ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)

dbSNP: rs1057518949
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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 RCV000415244 SCV000493000 likely pathogenic Retinitis pigmentosa 2013-12-10 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198950 SCV001369945 likely pathogenic Leber congenital amaurosis 11 2019-08-22 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,PP4.

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