ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12688CCG[3]

dbSNP: rs200020758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457761 SCV000561617 benign Pancreatic adenocarcinoma 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001637047 SCV001850283 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004837763 SCV005463846 benign not specified 2024-10-29 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003960102 SCV004771655 benign PALLD-related disorder 2019-10-10 no assertion criteria provided 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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