ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.135G>A (p.Ala45=)

gnomAD frequency: 0.00479  dbSNP: rs141968146
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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 RCV000196304 SCV000252780 benign Hereditary hemochromatosis 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712165 SCV005267715 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273160 SCV001455788 benign Hemochromatosis type 3 2020-09-16 no assertion criteria provided clinical testing

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