ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3302-1G>C

dbSNP: rs864321658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987328 SCV004805138 pathogenic Microcephaly 6, primary, autosomal recessive 2024-03-17 criteria provided, single submitter research
OMIM RCV000001893 SCV000022049 pathogenic Seckel syndrome 4 2010-06-01 no assertion criteria provided literature only

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