ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.941A>C (p.His314Pro)

dbSNP: rs1913779276
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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 RCV001199226 SCV001370263 likely pathogenic Cataract 21 multiple types 2019-06-11 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM6,PP2,PP3.

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