ClinVar Miner

Submissions for variant NM_001163315.3(FBXL17):c.964A>C (p.Asn322His)

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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 RCV005341663 SCV006002682 uncertain significance not specified 2025-01-17 criteria provided, single submitter clinical testing The c.964A>C (p.N322H) alteration is located in exon 1 (coding exon 1) of the FBXL17 gene. This alteration results from a A to C substitution at nucleotide position 964, causing the asparagine (N) at amino acid position 322 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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