ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) (rs267606972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732507 SCV000860472 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
OMIM RCV000003383 SCV000023541 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 2007-10-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509405 SCV000607301 not provided Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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