ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.2277+4A>G

dbSNP: rs1555444022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521522 SCV000618284 likely pathogenic not provided 2024-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 33528536)

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