ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.747A>G (p.Ala249=)

gnomAD frequency: 0.00009  dbSNP: rs774008151
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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 RCV000865468 SCV001006439 likely 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
Natera, Inc. RCV001275749 SCV001461198 likely benign Muscle eye brain disease 2020-09-16 no assertion criteria provided clinical testing

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