ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1254C>T (p.Gly418=)

gnomAD frequency: 0.00006  dbSNP: rs750736467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002109774 SCV002393470 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499989 SCV002812418 likely benign Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-09-30 criteria provided, single submitter clinical testing

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