ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.2991A>G (p.Thr997=)

gnomAD frequency: 0.00831  dbSNP: rs114808011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860669 SCV001000794 benign not provided 2025-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000860669 SCV001803456 likely benign not provided 2020-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501185 SCV002804610 likely benign Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 14 with or without anosmia 2022-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000860669 SCV005220241 likely benign not provided criteria provided, single submitter not provided

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