ClinVar Miner

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

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 RCV002183440 SCV002478457 likely benign not provided 2021-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500364 SCV002807915 likely benign Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-10-11 criteria provided, single submitter clinical testing

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