ClinVar Miner

Submissions for variant NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)

dbSNP: rs587776978
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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 RCV000043597 SCV001367659 uncertain significance Hypogonadotropic hypogonadism 19 with or without anosmia 2020-03-18 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: PM2,BP4.
OMIM RCV000043597 SCV000071615 pathogenic Hypogonadotropic hypogonadism 19 with or without anosmia 2013-05-02 no assertion criteria provided literature only

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