ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1285-6C>T

gnomAD frequency: 0.00009  dbSNP: rs377292905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194367 SCV000248573 uncertain significance not specified 2014-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814493 SCV000954906 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-11-24 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003338456 SCV004047824 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O criteria provided, single submitter clinical testing The splice site c.1285-6C>T variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is observed in 0.004 % alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The variant has been reported in ClinVar as uncertain significance. This sequence change falls in intron 15 of the POMGNT1 gene. It does not directly change the encoded amino acid sequence of the POMGNT1 protein. The available evidence is currently insufficient to determine the role of this variant in disease. For these reasons, it has been classified as a Variant of Uncertain Significance
Natera, Inc. RCV001828017 SCV002089605 uncertain significance Muscle eye brain disease 2019-10-28 no assertion criteria provided clinical testing

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