ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1527C>T (p.Asn509=)

gnomAD frequency: 0.00001  dbSNP: rs201943504
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 RCV001475910 SCV001680109 likely benign Hereditary hemochromatosis 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830881 SCV002079935 likely benign Hemochromatosis type 3 2021-10-06 no assertion criteria provided clinical testing

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