ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)

dbSNP: rs2150932891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837226 SCV002097725 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-07-09 criteria provided, single submitter clinical testing

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