ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)

gnomAD frequency: 0.00001  dbSNP: rs751185435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249754 SCV002516743 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002558733 SCV003718392 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.3737A>G (p.Y1246C) alteration is located in exon 23 (coding exon 20) of the WDFY3 gene. This alteration results from a A to G substitution at nucleotide position 3737, causing the tyrosine (Y) at amino acid position 1246 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Shen Lab, Columbia University Medical Center RCV001172305 SCV001335258 likely pathogenic Tracheoesophageal fistula 2019-07-01 no assertion criteria provided research

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