ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1050-3dup

dbSNP: rs754628395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276202 SCV000444789 uncertain significance Metaphyseal chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317262 SCV000444790 uncertain significance Chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502325 SCV002812275 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-08-02 criteria provided, single submitter clinical testing
Invitae RCV003765996 SCV004676050 benign not provided 2023-02-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922513 SCV004738948 likely benign PTH1R-related disorder 2019-09-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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