ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)

gnomAD frequency: 0.00001  dbSNP: rs794727291
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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) RCV000175881 SCV000227452 uncertain significance not provided 2014-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432865 SCV001635645 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-08-10 criteria provided, single submitter clinical testing

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