ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249709 SCV001423733 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-08 criteria provided, single submitter clinical testing The NDRG1 c.498C>A (p.Asn166Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in Genome Aggregation Database despite good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asn166Lys variant is classified as a variant of unknown significance for Charcot-Marie-Tooth type 4.

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