ClinVar Miner

Submissions for variant NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) (rs79901179)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416130 SCV000493483 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000419632 SCV000513109 likely benign not specified 2017-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000416130 SCV000610799 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Invitae RCV000555529 SCV000640431 benign Giant axonal neuropathy 1 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000555529 SCV001276372 likely benign Giant axonal neuropathy 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Inherited Neuropathy Consortium RCV000555529 SCV000929152 uncertain significance Giant axonal neuropathy 1 no assertion criteria provided literature only

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