ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.775C>G (p.Gln259Glu)

gnomAD frequency: 0.00220  dbSNP: rs10251512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000947036 SCV001093200 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547186 SCV003742361 likely benign Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003925874 SCV004746363 benign PCLO-related disorder 2019-05-09 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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