ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.-11G>A

gnomAD frequency: 0.00484  dbSNP: rs80107141
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127571 SCV000171148 benign not specified 2014-06-09 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.
Illumina Laboratory Services, Illumina RCV001097959 SCV001254293 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 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.
Illumina Laboratory Services, Illumina RCV001097960 SCV001254294 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 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.
Pars Genome Lab RCV001097960 SCV001652859 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-05-18 criteria provided, single submitter clinical testing

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