ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=)

gnomAD frequency: 0.00005  dbSNP: rs376138855
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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 RCV000892024 SCV001035877 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830946 SCV002089589 likely benign Muscle eye brain disease 2020-09-11 no assertion criteria provided clinical testing

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