ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.814C>A (p.Pro272Thr)

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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 RCV003291399 SCV003963089 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.814C>A (p.P272T) alteration is located in exon 7 (coding exon 7) of the WDR73 gene. This alteration results from a C to A substitution at nucleotide position 814, causing the proline (P) at amino acid position 272 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012846 SCV005635399 uncertain significance Galloway-Mowat syndrome 1 2024-03-01 criteria provided, single submitter clinical testing

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