ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr)

gnomAD frequency: 0.00004  dbSNP: rs766776212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458917 SCV000552226 benign CHARGE association 2022-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001547278 SCV001766942 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506128 SCV002814149 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-01-03 criteria provided, single submitter clinical testing

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