ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2226C>T (p.Gly742=)

gnomAD frequency: 0.00001  dbSNP: rs1017609666
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 RCV000861639 SCV001002012 likely benign Hereditary hemochromatosis 2024-11-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707422 SCV005221149 likely benign not provided criteria provided, single submitter not provided

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