ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.*6_*7insCCC

dbSNP: rs140722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253843 SCV000304508 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334905 SCV000459698 benign Metaphyseal chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000253843 SCV000705334 benign not specified 2017-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000987761 SCV001137207 benign Metaphyseal chondrodysplasia, Schmid type 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001618385 SCV001846092 benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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