ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1507G>C (p.Asp503His)

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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 RCV002888576 SCV003652231 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.1540G>C (p.D514H) alteration is located in exon 15 (coding exon 15) of the WDR35 gene. This alteration results from a G to C substitution at nucleotide position 1540, causing the aspartic acid (D) at amino acid position 514 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 RCV005028382 SCV005654956 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-06-04 criteria provided, single submitter clinical testing

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