ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)

gnomAD frequency: 0.00248  dbSNP: rs142190930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000536929 SCV000523109 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000441271 SCV000596521 uncertain significance not specified 2016-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079284 SCV000652784 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000536929 SCV001145113 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000536929 SCV004154309 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7

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