ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)

gnomAD frequency: 0.00001  dbSNP: rs747873220
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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 RCV002266755 SCV002548843 uncertain significance SIN3A-related intellectual disability syndrome due to a point mutation 2021-07-29 criteria provided, single submitter clinical testing

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