ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.313+32A>G

gnomAD frequency: 0.02868  dbSNP: rs113566258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514609 SCV001722494 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001514609 SCV001801612 likely benign not provided 2018-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29376733)
CeGaT Center for Human Genetics Tuebingen RCV001514609 SCV004042170 benign not provided 2024-07-01 criteria provided, single submitter clinical testing PTH1R: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001514609 SCV005260833 likely benign not provided criteria provided, single submitter not provided

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