ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.934-5A>G (rs886043337)

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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 RCV000336082 SCV000339533 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV001089086 SCV000772238 likely benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2019-12-31 criteria provided, single submitter clinical testing

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