ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.426C>T (p.His142=)

gnomAD frequency: 0.00011  dbSNP: rs374384310
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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) RCV000594088 SCV000706541 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455553 SCV001659316 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-12-19 criteria provided, single submitter clinical testing

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