ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser)

gnomAD frequency: 0.00001  dbSNP: rs387907462
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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 RCV002483074 SCV002788977 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2022-04-08 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054589 SCV000077279 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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