ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val)

gnomAD frequency: 0.00001  dbSNP: rs767043440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554343 SCV000631245 likely benign CHARGE association 2022-08-09 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027816 SCV001190433 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-03-30 criteria provided, single submitter clinical testing CHD7 NM_017780.3 exon 12 p.Ile1022Val (c.3064A>G): This variant has not been reported in the literature but is present in 0.003% (5/128332) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-61735168-A-G). This variant is present in ClinVar (Variation ID:459545). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV001027816 SCV002781264 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-09 criteria provided, single submitter clinical testing

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