ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1305A>G (p.Ala435=)

gnomAD frequency: 0.00012  dbSNP: rs372014293
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 RCV001493023 SCV001697645 likely benign Hereditary hemochromatosis 2023-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826325 SCV002079938 likely benign Hemochromatosis type 3 2019-11-13 no assertion criteria provided clinical testing

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