ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3243C>T (p.His1081=)

gnomAD frequency: 0.00002  dbSNP: rs779615947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001453291 SCV001656976 likely benign Pancreatic adenocarcinoma 2022-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038520 SCV002609410 likely benign not specified 2022-03-24 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 RCV003938814 SCV004759663 likely benign PALLD-related disorder 2020-12-22 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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