ClinVar Miner

Submissions for variant NM_014883.4(FAM13A):c.2465C>T (p.Pro822Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004228294 SCV003744089 uncertain significance not specified 2024-10-11 criteria provided, single submitter clinical testing The c.2465C>T (p.P822L) alteration is located in exon 19 (coding exon 19) of the FAM13A gene. This alteration results from a C to T substitution at nucleotide position 2465, causing the proline (P) at amino acid position 822 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV003128891 SCV003806305 pathogenic Squamous cell carcinoma 2022-06-06 criteria provided, single submitter research

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