ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.712G>A (p.Val238Met) (rs200898742)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175888 SCV000227459 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV000532435 SCV000631272 benign CHARGE association 2020-11-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000532435 SCV000781098 uncertain significance CHARGE association 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001706125 SCV001907391 benign not provided 2021-03-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25107291)

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