ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)

gnomAD frequency: 0.00001  dbSNP: rs886043958
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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) RCV000362367 SCV000342794 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085021 SCV001023434 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-12-06 criteria provided, single submitter clinical testing

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