ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)

dbSNP: rs1180165033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332924 SCV001525368 uncertain significance SIN3A-related intellectual disability syndrome due to a point mutation 2020-02-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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