ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.685-25GTT[6] (rs142647500)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000216003 SCV000230151 benign not specified 2014-10-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216003 SCV000269176 benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.685-13_685-11dup in intron 3 of ISPD: This variant is not expected to have cli nical significance because it has been identified in 17.2% (896/5208) of East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs142647500).
PreventionGenetics,PreventionGenetics RCV000216003 SCV000306595 benign not specified 2016-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333361 SCV000468013 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000992184 SCV000730095 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992184 SCV001144252 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV001513944 SCV001721653 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2020-11-27 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000216003 SCV001925965 benign not specified no assertion criteria provided clinical testing

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