ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.*6C>T

gnomAD frequency: 0.00061  dbSNP: rs181088115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723652 SCV000113245 uncertain significance not provided 2014-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081325 SCV000596573 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000723652 SCV001759365 benign not provided 2020-02-05 criteria provided, single submitter clinical testing

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