ClinVar Miner

Submissions for variant NM_006657.3(FTCD):c.*67C>T (rs139773262)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308685 SCV000436875 uncertain significance GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332228 SCV000483977 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382233 SCV000483978 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing

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