ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12898C>A

gnomAD frequency: 0.00004  dbSNP: rs1025237623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868586 SCV001009933 likely benign Pancreatic adenocarcinoma 2023-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027730 SCV003737654 uncertain significance not specified 2021-09-10 criteria provided, single submitter clinical testing The c.133C>A (p.P45T) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to A substitution at nucleotide position 133, causing the proline (P) at amino acid position 45 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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