ClinVar Miner

Submissions for variant NM_015261.3(NCAPD3):c.1689+20A>G

gnomAD frequency: 0.27325  dbSNP: rs1125399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001779944 SCV002016060 benign Microcephaly 22, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709143 SCV005234013 benign not provided criteria provided, single submitter not provided

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