ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)

dbSNP: rs576859525
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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 RCV001331914 SCV001524070 uncertain significance Microcephaly 21, primary, autosomal recessive 2020-09-22 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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