ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)

dbSNP: rs754558144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127374 SCV003803945 uncertain significance Autism spectrum disorder 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003699028 SCV004472525 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing

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