ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.831G>C (p.Pro277=)

dbSNP: rs775415630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577907 SCV001805393 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488406 SCV002798683 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570813 SCV003028656 likely benign CHARGE syndrome 2023-11-01 criteria provided, single submitter clinical testing

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