ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)

dbSNP: rs886039770
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong RCV000256202 SCV000322735 likely pathogenic Autism spectrum disorder 2016-10-11 no assertion criteria provided clinical testing

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