ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)

gnomAD frequency: 0.00004  dbSNP: rs767852518
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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) RCV000732025 SCV000859901 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001489238 SCV001693776 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-09-17 criteria provided, single submitter clinical testing

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