ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1467G>A (p.Glu489=)

gnomAD frequency: 0.00003  dbSNP: rs760759400
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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 RCV001444510 SCV001647515 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809609 SCV005435984 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing POMGNT1: BP4, BP7

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