ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2304G>A (p.Arg768=)

gnomAD frequency: 0.00001  dbSNP: rs748432333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887824 SCV001031410 likely benign Pancreatic adenocarcinoma 2023-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028366 SCV002733463 likely benign not specified 2022-03-23 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.

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