ClinVar Miner

Submissions for variant NM_005215.4(DCC):c.601C>G (p.Arg201Gly)

gnomAD frequency: 0.45169  dbSNP: rs2229080
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990100 SCV001140896 benign Mirror movements 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664594 SCV001876544 benign Gaze palsy, familial horizontal, with progressive scoliosis, 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990100 SCV001876545 benign Mirror movements 1 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001724204 SCV001950642 benign not provided 2019-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9440618)
Breakthrough Genomics, Breakthrough Genomics RCV001724204 SCV005250829 benign not provided criteria provided, single submitter not provided

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