ClinVar Miner

Submissions for variant NM_182700.6(SP8):c.1492C>T (p.Pro498Ser)

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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 RCV004457802 SCV004957740 uncertain significance not specified 2024-01-04 criteria provided, single submitter clinical testing The c.1492C>T (p.P498S) alteration is located in exon 2 (coding exon 2) of the SP8 gene. This alteration results from a C to T substitution at nucleotide position 1492, causing the proline (P) at amino acid position 498 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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