ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)

dbSNP: rs895608889
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723280 SCV000854669 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2018-05-03 no assertion criteria provided clinical testing

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