ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.243dup (p.Asp82fs)

dbSNP: rs1646257371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311635 SCV001501899 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002226538 SCV002505605 pathogenic Chromosome 1p32-p31 deletion syndrome 2022-04-11 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP

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