ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.30C>T (p.Leu10=) (rs183702021)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865381 SCV001006335 benign Charcot-Marie-Tooth Neuropathy X 2020-12-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174166 SCV001337287 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001592966 SCV001814450 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000789600 SCV001880866 benign not specified 2020-09-22 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789600 SCV000928958 benign not specified no assertion criteria provided literature only
Natera, Inc. RCV001271688 SCV001453012 likely benign Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 2020-06-11 no assertion criteria provided clinical testing

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