ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del) (rs747975797)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079666 SCV000290581 benign Early infantile epileptic encephalopathy 2019-12-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440326 SCV000510852 likely benign not provided 2016-12-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592162 SCV000703154 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000440326 SCV000842292 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716318 SCV000847158 likely benign History of neurodevelopmental disorder 2018-10-24 criteria provided, single submitter clinical testing Other data supporting benign classification;No disease association in small case-control study

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