ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.205-3C>A

gnomAD frequency: 0.00031  dbSNP: rs200425622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199142 SCV001370138 uncertain significance Van der Woude syndrome 2 2019-05-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001199142 SCV001717877 benign Van der Woude syndrome 2 2024-02-05 criteria provided, single submitter clinical testing

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