ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)

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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 RCV003342954 SCV004067961 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.1217A>G (p.N406S) alteration is located in exon 12 (coding exon 12) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 1217, causing the asparagine (N) at amino acid position 406 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 RCV005036757 SCV005665175 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-03-06 criteria provided, single submitter clinical testing

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