ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.297dup (p.Pro100fs)

dbSNP: rs1553149202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501490 SCV000595985 likely pathogenic Chromosome 1p32-p31 deletion syndrome 2017-03-17 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000501490 SCV001149848 likely pathogenic Chromosome 1p32-p31 deletion syndrome 2020-01-20 criteria provided, single submitter clinical testing

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