ClinVar Miner

Submissions for variant NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) (rs864309646)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203231 SCV000256725 likely pathogenic Nonsyndromic hypergonadotropic hypogonadism 2015-05-01 criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000506534 SCV000787449 pathogenic OVARIAN DYSGENESIS 5 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Pathogenic, for Ovarian dysgenesis 5, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease (PMID:25774885). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:25774885).
OMIM RCV000506534 SCV000600028 pathogenic OVARIAN DYSGENESIS 5 2015-05-01 no assertion criteria provided literature only

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