ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=)

gnomAD frequency: 0.00001  dbSNP: rs183698543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530635 SCV000649952 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732506 SCV000860471 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing

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