ClinVar Miner

Submissions for variant NM_001320.7(CSNK2B):c.1A>G (p.Met1Val)

dbSNP: rs1801755635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200288 SCV001371206 likely pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001200288 SCV001783933 pathogenic not provided 2020-04-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)

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