ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7107C>A (p.Val2369=)

dbSNP: rs773674773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634435 SCV000755742 benign CHARGE association 2024-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766022 SCV000897459 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-04 criteria provided, single submitter clinical testing
GeneDx RCV003318611 SCV004022761 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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