ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1743dup (p.Leu582fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004556990 SCV005045533 likely pathogenic Chromosome 2q32-q33 deletion syndrome 2024-03-27 criteria provided, single submitter clinical testing Following reasons led to the classification: 1) the variant is not listed in HGMD, ClinVar, LOVD3 and not described in literature 2) the variant leads to truncated protein 3) comparison with ExAC and gnomAD did not provide evidence that this variant can be detected in non-affected people 4) the mutation type is known to be pathogenic in the disease of question (Glass syndrome)

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