ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.6562C>A

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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 RCV004873670 SCV005505521 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.6266C>A (p.P2089H) alteration is located in exon 40 (coding exon 40) of the SSPO gene. This alteration results from a C to A substitution at nucleotide position 6266, causing the proline (P) at amino acid position 2089 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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