ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)

gnomAD frequency: 0.00333  dbSNP: rs151078549
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174368 SCV000225656 benign not specified 2014-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001721104 SCV000522203 benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000174368 SCV000614752 benign not specified 2020-03-12 criteria provided, single submitter clinical testing
Invitae RCV000534768 SCV000649918 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721104 SCV004701745 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing POMT2: PM5, BS1

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