ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.638+12G>A

dbSNP: rs375241177
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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 RCV002101795 SCV002439191 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500145 SCV002809317 likely benign Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2022-04-15 criteria provided, single submitter clinical testing

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