ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.933+5G>C (rs1554305652)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000623518 SCV000740310 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 2018-02-22 criteria provided, single submitter clinical testing

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