ClinVar Miner

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

gnomAD frequency: 0.00018  dbSNP: 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 2024-01-27 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 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 2020-06-11 no assertion criteria provided clinical testing

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