ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.836-19dup

dbSNP: rs3839757
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179368 SCV000231606 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272252 SCV000468009 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514905 SCV001722867 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610496 SCV001841947 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000179368 SCV001919613 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000179368 SCV001964820 benign not specified no assertion criteria provided clinical testing

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