ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2688G>T (p.Arg896=)

gnomAD frequency: 0.00001  dbSNP: rs1257537496
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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 RCV001422508 SCV001625059 likely benign Pancreatic adenocarcinoma 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038202 SCV002743342 likely benign not specified 2022-07-11 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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