ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His)

gnomAD frequency: 0.00002  dbSNP: rs750208984
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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 RCV001331987 SCV001524166 uncertain significance Intellectual disability, X-linked, syndromic, Houge type 2020-09-19 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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