ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) (rs777647845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000656231 SCV000883232 likely pathogenic EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Ehlers-Danlos syndrome, classic-like, 2, autosomal recessive. 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-Strong => PVS1 downgraded in strength to Strong.
OMIM RCV000656231 SCV000778183 pathogenic EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 2018-05-30 no assertion criteria provided literature only

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