ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)

gnomAD frequency: 0.00003  dbSNP: rs386834018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592161 SCV000706795 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097777 SCV001254088 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2017-04-28 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.
Illumina Laboratory Services, Illumina RCV001097778 SCV001254089 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2017-04-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532545 SCV003018708 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-16 criteria provided, single submitter clinical testing

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