ClinVar Miner

Submissions for variant NM_015341.5(NCAPH):c.1867G>A (p.Ala623Thr)

gnomAD frequency: 0.00106  dbSNP: rs111936698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328895 SCV001520131 uncertain significance Microcephaly 23, primary, autosomal recessive 2019-12-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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