ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.306C>T (p.Gly102=) (rs2233322)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095188 SCV000472139 likely benign Charcot-Marie-Tooth disease, type 4D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000459992 SCV000562110 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712374 SCV000842851 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174353 SCV001337489 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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