ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6468C>T (p.Val2156=)

gnomAD frequency: 0.00003  dbSNP: rs777858802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861986 SCV001002412 benign CHARGE association 2023-10-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195447 SCV001365820 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Val2156Val in exon 31 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.21% (18/8556) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs777858802).
GeneDx RCV001655612 SCV001871642 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507464 SCV002813055 likely benign CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-01 criteria provided, single submitter clinical testing

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