ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) (rs397515409)

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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 RCV000347230 SCV000341225 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
OMIM RCV000032812 SCV000056580 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 2012-12-07 no assertion criteria provided literature only

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