ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.*127dup

dbSNP: rs142021243
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377157 SCV000444811 benign Chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268644 SCV000444812 benign Metaphyseal chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712083 SCV001939836 benign not provided 2019-12-01 criteria provided, single submitter clinical testing

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