ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu)

gnomAD frequency: 0.79942  dbSNP: rs714774
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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 RCV001779937 SCV002016050 benign Microcephaly 21, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001847333 SCV002104465 benign not provided 2022-03-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001847333 SCV005236872 benign not provided criteria provided, single submitter not provided

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