ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1236A>G (p.Leu412=)

gnomAD frequency: 0.00001  dbSNP: rs780965440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480903 SCV001685234 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2025-01-27 criteria provided, single submitter clinical testing

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