ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1212-18C>T

gnomAD frequency: 0.00008  dbSNP: rs200401411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115662 SCV002403783 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508008 SCV002813568 likely benign Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002115662 SCV005241782 benign not provided criteria provided, single submitter not provided

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