ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2137-5C>T

gnomAD frequency: 0.00111  dbSNP: rs374964799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862522 SCV001003036 benign Hereditary hemochromatosis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001272111 SCV002803539 likely benign Hemochromatosis type 3 2021-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272111 SCV001453760 benign Hemochromatosis type 3 2020-09-16 no assertion criteria provided clinical testing

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