ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.2459G>A (p.Arg820His)

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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 RCV002747039 SCV003561518 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.2492G>A (p.R831H) alteration is located in exon 22 (coding exon 22) of the WDR35 gene. This alteration results from a G to A substitution at nucleotide position 2492, causing the arginine (R) at amino acid position 831 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005028352 SCV005654913 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-04-12 criteria provided, single submitter clinical testing

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