ClinVar Miner

Submissions for variant NM_004643.4(PABPN1):c.787C>A (p.Arg263=)

gnomAD frequency: 0.00011  dbSNP: rs886044639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310116 SCV000345741 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940079 SCV004748937 likely benign BCL2L2-PABPN1-related disorder 2019-05-24 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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