ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1242C>T (p.Phe414=)

gnomAD frequency: 0.00026  dbSNP: rs150883560
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 RCV001439855 SCV001642755 likely benign Hereditary hemochromatosis 2024-03-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832562 SCV002079939 likely benign Hemochromatosis type 3 2020-04-16 no assertion criteria provided clinical testing

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