ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)

gnomAD frequency: 0.00008  dbSNP: rs371633293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722592 SCV000715761 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863236 SCV001003864 likely benign CHARGE syndrome 2023-07-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722592 SCV002063193 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491249 SCV002802492 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900373 SCV004716574 likely benign CHD7-related disorder 2023-11-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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