ClinVar Miner

Submissions for variant NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) (rs104894696)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205666 SCV000259882 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000599701 SCV000728540 likely benign not specified 2017-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000990194 SCV001141047 benign Hemochromatosis type 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000205666 SCV001151773 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
OMIM RCV000004507 SCV000024681 risk factor Hemochromatosis, type 2a, modifier of 2003-09-01 no assertion criteria provided literature only

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