ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12625A>G

gnomAD frequency: 0.49745  dbSNP: rs62333013
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000456012 SCV000539987 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000547431 SCV000656944 benign Pancreatic adenocarcinoma 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000456012 SCV002627251 benign not specified 2020-07-30 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315965 SCV004016516 benign Pancreatic cancer, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715748 SCV005303938 benign not provided criteria provided, single submitter not provided

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