ClinVar Miner

Submissions for variant NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136891 SCV003823984 uncertain significance Coffin-Siris syndrome 11 2022-08-31 criteria provided, single submitter clinical testing

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