ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)

dbSNP: rs2141487525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375977 SCV001572973 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2020-01-09 criteria provided, single submitter clinical testing

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