ClinVar Miner

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

gnomAD frequency: 0.00153  dbSNP: rs200898742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175888 SCV000227459 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532435 SCV000631272 benign CHARGE syndrome 2024-02-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000532435 SCV000781098 uncertain significance CHARGE syndrome 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)
Genetic Services Laboratory, University of Chicago RCV000175888 SCV002066189 benign not specified 2019-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706125 SCV005092208 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing CHD7: BS1

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