ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)

dbSNP: rs769180471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992376 SCV004810052 likely pathogenic Metaphyseal chondrodysplasia, Jansen type 2024-04-04 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723315 SCV000854706 pathogenic Primary failure of tooth eruption 2018-06-04 no assertion criteria provided clinical testing

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