ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1111-9C>T

gnomAD frequency: 0.00006  dbSNP: rs757533535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877561 SCV001020309 benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001672977 SCV001886742 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277252 SCV001464161 benign Muscle eye brain disease 2020-04-30 no assertion criteria provided clinical testing

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