ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) (rs150796527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864008 SCV001004749 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160458 SCV001322262 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173708 SCV001336822 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Natera, Inc. RCV001160458 SCV001456521 uncertain significance Charcot-Marie-Tooth disease, type 4D 2019-11-11 no assertion criteria provided clinical testing

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