ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)

dbSNP: rs121434599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002482867 SCV002785075 pathogenic Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-09-30 criteria provided, single submitter clinical testing
OMIM RCV000014752 SCV000035007 pathogenic Chondrodysplasia Blomstrand type 1998-09-01 no assertion criteria provided literature only

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