ClinVar Miner

Submissions for variant NM_153702.4(ELMOD2):c.428A>C (p.Lys143Thr)

gnomAD frequency: 0.00314  dbSNP: rs142450830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217816 SCV000269076 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Lys143Thr in exon 6 of ELMOD2: This variant is not expected to have clinical sig nificance because it has been identified in 3.6% (7/194) of Han Chinese chromoso mes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih .gov/projects/SNP; dbSNP rs142450830).
Breakthrough Genomics, Breakthrough Genomics RCV004715767 SCV005303439 benign not provided criteria provided, single submitter not provided

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