ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)

gnomAD frequency: 0.00046  dbSNP: rs369233658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192728 SCV000248415 uncertain significance not specified 2014-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001640288 SCV001860231 benign not provided 2019-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927800 SCV004741254 likely benign PACS1-related disorder 2021-09-02 no assertion criteria provided 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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