ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.542C>T (p.Pro181Leu)

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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 RCV004959223 SCV005455116 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.542C>T (p.P181L) alteration is located in exon 4 (coding exon 3) of the ANXA11 gene. This alteration results from a C to T substitution at nucleotide position 542, causing the proline (P) at amino acid position 181 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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