ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2976G>A (p.Thr992=)

gnomAD frequency: 0.00033  dbSNP: rs143717202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468633 SCV000561614 likely benign Pancreatic adenocarcinoma 2023-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023020 SCV002746035 likely benign not specified 2022-02-13 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 RCV003972797 SCV004788916 likely benign PALLD-related disorder 2024-02-01 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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