ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.341T>C (p.Leu114Pro)

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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 RCV004383723 SCV004869516 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.341T>C (p.L114P) alteration is located in exon 2 (coding exon 2) of the FANCE gene. This alteration results from a T to C substitution at nucleotide position 341, causing the leucine (L) at amino acid position 114 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038649 SCV005669085 uncertain significance Fanconi anemia complementation group E 2024-06-03 criteria provided, single submitter clinical testing

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