ClinVar Miner

Submissions for variant NM_021072.3(HCN1):c.215_223delGCGGCGGCG (p.Gly72_Gly74del) (rs747975797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716399 SCV000847239 likely benign History of neurodevelopmental disorder 2017-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,No disease association in small case-control study
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513768 SCV000609634 likely benign not provided 2017-08-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173510 SCV000224630 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
Invitae RCV000463638 SCV000554457 likely benign Early infantile epileptic encephalopathy 2017-12-26 criteria provided, single submitter clinical testing

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