ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1605-9C>T

gnomAD frequency: 0.00001  dbSNP: rs368345562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964581 SCV001111803 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832210 SCV002089594 likely benign Muscle eye brain disease 2021-05-20 no assertion criteria provided clinical testing

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