ClinVar Miner

Submissions for variant NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)

gnomAD frequency: 0.00001  dbSNP: rs28933074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000030909 SCV002812045 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2021-08-10 criteria provided, single submitter clinical testing
OMIM RCV000030909 SCV000037672 pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 1998-01-01 no assertion criteria provided literature only

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