ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.118G>T (p.Ala40Ser) (rs1602348782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Codex Genetics Limited RCV000984885 SCV000995994 likely pathogenic X-linked hereditary motor and sensory neuropathy 2019-02-28 no assertion criteria provided provider interpretation

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