ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)

dbSNP: rs2520929027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136894 SCV003823990 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003396913 SCV004102747 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2023-11-10 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005227896 SCV005871006 uncertain significance SMC1A-related disorder 2024-01-01 criteria provided, single submitter clinical testing PM2, PP3

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