ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)

gnomAD frequency: 0.00009  dbSNP: rs376294666
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
Invitae RCV000882333 SCV001025565 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817079 SCV002072417 benign not specified 2020-05-15 criteria provided, single submitter clinical testing

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