ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1027-44A>G

gnomAD frequency: 0.37971  dbSNP: rs7527668
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252026 SCV000312909 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830213 SCV000971948 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001533742 SCV001750531 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533743 SCV001750532 benign Retinitis pigmentosa 76 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789310 SCV002031725 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789309 SCV002031726 benign Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830213 SCV005284471 benign not provided criteria provided, single submitter not provided

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