ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.615T>C (p.Ala205=)

gnomAD frequency: 0.00001  dbSNP: rs200829369
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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 RCV000982166 SCV001130179 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505493 SCV002813517 likely benign Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-11-19 criteria provided, single submitter clinical testing

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