ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)

gnomAD frequency: 0.00190  dbSNP: rs149571533
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518613 SCV000615321 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Invitae RCV000528567 SCV000629414 benign Spastic paraplegia 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092435 SCV001248948 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SLC33A1: PP2, BS1
GeneDx RCV001092435 SCV001758671 benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848699 SCV002105207 likely benign Hereditary spastic paraplegia 2019-04-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000518613 SCV001956238 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001092435 SCV001967141 likely benign not provided no assertion criteria provided clinical testing

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