ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1031C>G (p.Pro344Arg) (rs541372136)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000266534 SCV000342646 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Invitae RCV000541264 SCV000645885 likely benign Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-05-12 criteria provided, single submitter clinical testing

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