ClinVar Miner

Submissions for variant NM_017653.5(DYM):c.321G>A (p.Leu107=) (rs16950519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000341380 SCV000408841 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402458 SCV000408842 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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