ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.441C>T (p.Ala147=) (rs765686240)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862224 SCV001002702 likely benign Charcot-Marie-Tooth Neuropathy X 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174169 SCV001337291 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790234 SCV000929627 benign not specified no assertion criteria provided literature only
Natera, Inc. RCV001174169 SCV001462645 likely benign Charcot-Marie-Tooth disease 2020-09-16 no assertion criteria provided clinical testing

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