ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)

gnomAD frequency: 0.00002  dbSNP: rs113810922
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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 RCV001335773 SCV001529006 uncertain significance Intellectual disability, autosomal recessive 58 2018-08-08 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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