ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.557dup (p.Asp187fs)

dbSNP: rs2149110899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002074462 SCV002320730 likely pathogenic Intellectual disability, autosomal dominant 39 2022-02-26 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002074462 SCV002579486 likely pathogenic Intellectual disability, autosomal dominant 39 2021-11-25 criteria provided, single submitter clinical testing

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