ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.11514-2A>C

dbSNP: rs2135292977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251255 SCV002521821 likely pathogenic Wiedemann-Steiner syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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