ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=)

gnomAD frequency: 0.50857  dbSNP: rs917634
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638926 SCV001848221 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779271 SCV002016053 benign Microcephaly 21, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638926 SCV005236876 benign not provided criteria provided, single submitter not provided

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