ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) (rs1559532562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College,Manipal University RCV000714279 SCV000746262 uncertain significance Eiken skeletal dysplasia 2018-01-16 criteria provided, single submitter clinical testing
OMIM RCV000714279 SCV000864070 pathogenic Eiken skeletal dysplasia 2019-02-04 no assertion criteria provided literature only

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