ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)

gnomAD frequency: 0.00001  dbSNP: rs139266745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000953928 SCV001475413 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451128 SCV001654750 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277256 SCV001464165 likely benign Muscle eye brain disease 2020-01-06 no assertion criteria provided clinical testing

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