ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val)

gnomAD frequency: 0.00004  dbSNP: rs201474414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000267505 SCV000342271 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494875 SCV002783309 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000267505 SCV005190115 uncertain significance not provided criteria provided, single submitter not provided

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