ClinVar Miner

Submissions for variant NM_001163315.3(FBXL17):c.920C>T (p.Pro307Leu)

dbSNP: rs1460138112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004155183 SCV003637861 uncertain significance not specified 2022-08-08 criteria provided, single submitter clinical testing The c.920C>T (p.P307L) alteration is located in exon 1 (coding exon 1) of the FBXL17 gene. This alteration results from a C to T substitution at nucleotide position 920, causing the proline (P) at amino acid position 307 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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