ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met)

gnomAD frequency: 0.15371  dbSNP: rs2243682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579291 SCV001806770 benign Microcephaly 13, primary, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001597319 SCV001831199 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597319 SCV005303743 benign not provided criteria provided, single submitter not provided

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