ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)

gnomAD frequency: 0.00002  dbSNP: rs886042244
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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) RCV000270489 SCV000332845 uncertain significance not provided 2015-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491033 SCV001695615 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-09-10 criteria provided, single submitter clinical testing

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