ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.537G>C (p.Leu179=)

gnomAD frequency: 0.00458  dbSNP: rs149932476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426833 SCV000523076 benign not specified 2016-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000535715 SCV000652787 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437179 SCV004154308 benign not provided 2023-03-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003437179 SCV005241088 benign not provided criteria provided, single submitter not provided

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