ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) (rs1555341782)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000710346 SCV000840543 uncertain significance Nonsyndromic hearing loss and deafness 2018-09-20 reviewed by expert panel curation The p.Pro225Leu variant in GJB2 is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org) (PM2). This variant has been detected in 1 patient with hearing loss in trans with pathogenic or suspected-pathogenic variants (PM3; PMID:21112098). In summary, this variant meets criteria to be classified as a variant of uncertain clinical significance for autosomal recessive nonsyndromic hearing loss based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, PM3.
Counsyl RCV000671590 SCV000796578 uncertain significance Deafness, autosomal recessive 1A 2017-12-19 criteria provided, single submitter clinical testing

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