ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.2992-18_2992-17del

dbSNP: rs151246139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363199 SCV000383479 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270877 SCV000383480 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001775764 SCV002013492 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001775764 SCV002470845 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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