ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073997 SCV001239563 uncertain significance Retinal dystrophy 2018-10-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195220 SCV001365527 uncertain significance not specified 2019-05-21 criteria provided, single submitter clinical testing The p.Thr4591Ile variant in ADGRV1 has not been previously reported in individuals with hearing loss but has been identified in 0.01% (13/128070) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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