ClinVar Miner

Submissions for variant NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) (rs200353554)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718124 SCV000848986 likely benign Seizures 2017-08-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data
Athena Diagnostics Inc RCV000429471 SCV000612844 likely benign not provided 2017-10-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000429471 SCV000892070 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429471 SCV000511529 likely benign not provided 2016-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000671703 SCV000796704 likely benign Ceroid lipofuscinosis neuronal 5 2017-12-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187062 SCV000224521 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000187062 SCV000240637 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000462153 SCV000560158 benign Neuronal ceroid lipofuscinosis 2018-01-12 criteria provided, single submitter clinical testing

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