ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.381T>C (p.Pro127=)

gnomAD frequency: 0.00005  dbSNP: rs373676882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550353 SCV001770666 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501888 SCV002809432 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570685 SCV003003182 likely benign CHARGE syndrome 2024-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910871 SCV004724791 likely benign CHD7-related disorder 2019-06-17 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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