ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003443188 SCV003926471 likely pathogenic Intellectual disability, autosomal dominant 52 no assertion criteria provided clinical testing

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