ClinVar Miner

Submissions for variant NM_002381.5(MATN3):c.1406-4C>T (rs35973216)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253288 SCV000308859 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299140 SCV000426075 likely benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293592 SCV000483899 benign Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345898 SCV000483900 benign Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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