ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs)

dbSNP: rs1932981715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253001 SCV001428499 likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia 2018-10-02 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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