ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.76G>A (p.Ala26Thr)

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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 RCV004480654 SCV004978719 uncertain significance Inborn genetic diseases 2024-02-13 criteria provided, single submitter clinical testing The c.76G>A (p.A26T) alteration is located in exon 2 (coding exon 2) of the WDR73 gene. This alteration results from a G to A substitution at nucleotide position 76, causing the alanine (A) at amino acid position 26 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 RCV005006421 SCV005635447 uncertain significance Galloway-Mowat syndrome 1 2023-12-23 criteria provided, single submitter clinical testing

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