ClinVar Miner

Submissions for variant NM_006182.4(DDR2):c.1504+25T>C

gnomAD frequency: 0.95433  dbSNP: rs1780003
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246308 SCV000311396 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660291 SCV001876603 benign Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660292 SCV001876604 benign Warburg-cinotti syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001722324 SCV001949266 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722324 SCV005285853 benign not provided criteria provided, single submitter not provided
Faculté Pluridciplinaire Nador, Université Mohamed Premier RCV001250953 SCV001250936 uncertain significance Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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