ClinVar Miner

Submissions for variant NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)

dbSNP: rs779101828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000736033 SCV001520182 uncertain significance Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 2019-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000736033 SCV000864252 pathogenic Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 2021-05-18 no assertion criteria provided literature only

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