ClinVar Miner

Submissions for variant NC_000017.11:g.8248104dup

dbSNP: rs372313776
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338435 SCV000483697 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692085 SCV001909308 benign not provided 2019-10-21 criteria provided, single submitter clinical testing

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