ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.360C>T (p.Val120=) (rs183141256)

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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 RCV000316509 SCV000343048 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285781 SCV000468021 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000650393 SCV000772237 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-01-02 criteria provided, single submitter clinical testing

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