ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.297C>T (p.Phe99=)

dbSNP: rs886053847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306305 SCV000408843 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365773 SCV000408844 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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