ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)

gnomAD frequency: 0.00061  dbSNP: rs146121135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731258 SCV000716109 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731258 SCV000859053 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088027 SCV001100535 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000731258 SCV001145191 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731258 SCV004123780 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing POMGNT1: BP4, BP7

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