ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.514del (p.Trp172fs) (rs1057517508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411799 SCV000487657 likely pathogenic Deafness, autosomal recessive 1A 2016-07-08 criteria provided, single submitter clinical testing
Counsyl RCV000409815 SCV000487658 likely pathogenic Deafness, autosomal dominant 3a 2016-07-08 criteria provided, single submitter clinical testing

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