ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.189T>G (p.Asp63Glu)

gnomAD frequency: 0.00413  dbSNP: rs115591710
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Total submissions: 6
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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 RCV000417592 SCV000511551 likely benign not provided 2016-06-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000417592 SCV000726369 benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Invitae RCV001083933 SCV001012597 benign Marinesco-Sjögren syndrome 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000611008 SCV001474734 benign not specified 2020-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000417592 SCV004699073 benign not provided 2023-12-01 criteria provided, single submitter clinical testing SIL1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003902468 SCV004718538 benign SIL1-related condition 2019-08-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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