ClinVar Miner

Submissions for variant NM_032793.5(MFSD2A):c.1533C>T (p.Asp511=)

gnomAD frequency: 0.00073  dbSNP: rs138442381
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
Genetic Services Laboratory, University of Chicago RCV001819428 SCV002067674 likely benign not specified 2018-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077296 SCV002406927 benign not provided 2025-01-30 criteria provided, single submitter clinical testing

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