ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.18del (p.Ser7fs)

dbSNP: rs199422202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856752 SCV000999300 pathogenic Microcephaly 1, primary, autosomal recessive criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781167 SCV002017005 pathogenic not provided 2021-05-14 criteria provided, single submitter clinical testing
OMIM RCV000001890 SCV000022046 pathogenic Microcephaly 6, primary, autosomal recessive 2013-05-01 no assertion criteria provided literature only
GeneReviews RCV000001890 SCV000041438 not provided Microcephaly 6, primary, autosomal recessive no assertion provided literature only

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