ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)

gnomAD frequency: 0.00007  dbSNP: rs187954010
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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 RCV001395288 SCV001596992 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831413 SCV002089603 likely benign Muscle eye brain disease 2019-10-24 no assertion criteria provided clinical testing

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