ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)

dbSNP: rs541818422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806474 SCV000946477 benign CHARGE association 2023-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507397 SCV002816432 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-22 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003411780 SCV004113916 uncertain significance CHD7-related condition 2022-10-03 criteria provided, single submitter clinical testing The CHD7 c.7097T>C variant is predicted to result in the amino acid substitution p.Leu2366Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0034% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61768694-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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