ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.750A>G (p.Gln250=)

gnomAD frequency: 0.00011  dbSNP: rs15594
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079108 SCV001006624 likely benign Spastic paraplegia 2023-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000865629 SCV001145697 benign not provided 2018-10-31 criteria provided, single submitter clinical testing

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