ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1881G>A (p.Ala627=) (rs146588608)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000175331 SCV000614758 benign not specified 2017-04-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175331 SCV000226802 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327579 SCV000388974 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648187 SCV000770001 benign 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 2017-12-15 criteria provided, single submitter clinical testing

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