ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)

gnomAD frequency: 0.00001  dbSNP: rs1017867504
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Total submissions: 1
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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 RCV003127417 SCV003803995 likely benign Autism spectrum disorder criteria provided, single submitter clinical testing

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