ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) (rs112095333)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439968 SCV000511184 likely benign not provided 2017-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001079153 SCV000655686 benign Myoclonic-atonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000439968 SCV000843945 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716765 SCV000847608 likely benign History of neurodevelopmental disorder 2017-11-03 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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