ClinVar Miner

Submissions for variant NM_007180.3(TREH):c.419A>G (p.Lys140Arg)

gnomAD frequency: 0.00371  dbSNP: rs34978247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000432910 SCV000511418 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV000432910 SCV005212883 likely benign not provided criteria provided, single submitter not provided

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