ClinVar Miner

Submissions for variant NM_016252.4(BIRC6):c.11653A>T (p.Ser3885Cys)

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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 RCV004344471 SCV004078406 uncertain significance not specified 2023-06-21 criteria provided, single submitter clinical testing The c.11653A>T (p.S3885C) alteration is located in exon 58 (coding exon 58) of the BIRC6 gene. This alteration results from a A to T substitution at nucleotide position 11653, causing the serine (S) at amino acid position 3885 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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