ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=)

gnomAD frequency: 0.00011  dbSNP: rs367596859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378371 SCV000341157 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001417068 SCV001619263 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-06-28 criteria provided, single submitter clinical testing

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