ClinVar Miner

Submissions for variant NM_022454.4(SOX17):c.574C>T (p.Pro192Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004457586 SCV004956138 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.574C>T (p.P192S) alteration is located in exon 2 (coding exon 2) of the SOX17 gene. This alteration results from a C to T substitution at nucleotide position 574, causing the proline (P) at amino acid position 192 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005051441 SCV005675529 uncertain significance Vesicoureteral reflux 3 2024-02-19 criteria provided, single submitter clinical testing

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