ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1779C>A (p.Ala593=)

dbSNP: rs369939552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875732 SCV001018201 likely benign Baller-Gerold syndrome 2024-01-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256578 SCV002527833 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Revvity Omics, Revvity RCV003132116 SCV003813800 uncertain significance not provided 2021-08-04 criteria provided, single submitter clinical testing

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