ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)

gnomAD frequency: 0.00002  dbSNP: rs548706525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825135 SCV000966395 likely benign not specified 2018-02-10 criteria provided, single submitter clinical testing p.Thr59Ser in exon 2 of CHD7: This variant is not expected to have clinical sign ificance because it has been in identified in an individual with hearing loss wh o had an alternate genetic cause for the hearing loss. In addition, computation al analysis and conservation data do not suggest an impact to the protein. The v ariant was also identified in 0.03% (6/23928) of African chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs548 706525). ACMG/AMP criteria applied: BP4; BP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856263 SCV002195223 benign CHARGE syndrome 2023-09-12 criteria provided, single submitter clinical testing

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