ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=)

dbSNP: rs150442784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516416 SCV001724690 benign Spastic paraplegia 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000863387 SCV001881594 benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847040 SCV002105214 likely benign Hereditary spastic paraplegia 2016-12-16 criteria provided, single submitter clinical testing

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