ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.127A>G (p.Ile43Val)

gnomAD frequency: 0.00008  dbSNP: rs201542180
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315308 SCV000849069 likely benign Inborn genetic diseases 2017-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000862090 SCV001002535 likely benign CHARGE association 2024-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162203 SCV001324146 uncertain significance Hypogonadotropic hypogonadism 5 with or without anosmia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001538105 SCV001755713 benign not provided 2020-10-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28475860, 29304373)
CeGaT Center for Human Genetics Tuebingen RCV001538105 SCV004155833 benign not provided 2022-09-01 criteria provided, single submitter clinical testing CHD7: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001538105 SCV004562599 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing

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