ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp)

dbSNP: rs145874548
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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 RCV001198678 SCV001369673 uncertain significance Singleton-Merten syndrome 2 2018-10-01 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: PM2.

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