ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.421-9C>T

gnomAD frequency: 0.00003  dbSNP: rs748122023
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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 RCV000945203 SCV001091193 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836035 SCV002089635 likely benign Muscle eye brain disease 2020-10-29 no assertion criteria provided clinical testing

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