ClinVar Miner

Submissions for variant NM_001330288.2(SMARCC2):c.1382+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136886 SCV003823979 uncertain significance Coffin-Siris syndrome 8 2020-09-02 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003136886 SCV004697632 likely pathogenic Coffin-Siris syndrome 8 criteria provided, single submitter clinical testing

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