ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)

dbSNP: rs1665711818
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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 RCV001198810 SCV001369805 likely pathogenic Chromosome 1p32-p31 deletion syndrome 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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