ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.865+12dup

gnomAD frequency: 0.00004  dbSNP: rs202014808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333906 SCV000383521 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386016 SCV000383522 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003765817 SCV004685218 benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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