ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.364G>A (p.Val122Met)

gnomAD frequency: 0.00274  dbSNP: rs149948290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193477 SCV000248578 benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513677 SCV000609651 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001081228 SCV000652781 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000513677 SCV000714805 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513677 SCV001475980 likely benign not provided 2019-10-09 criteria provided, single submitter clinical testing

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