ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.582G>A (p.Arg194=)

dbSNP: rs398124309
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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) RCV000081804 SCV000113739 uncertain significance not provided 2013-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398919 SCV001600701 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-12-30 criteria provided, single submitter clinical testing

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