ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12718C>T

gnomAD frequency: 0.00001  dbSNP: rs570874237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195528 SCV000254732 likely benign Pancreatic adenocarcinoma 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020468 SCV003745383 uncertain significance not specified 2021-12-03 criteria provided, single submitter clinical testing The c.313C>T (p.P105S) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to T substitution at nucleotide position 313, causing the proline (P) at amino acid position 105 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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