ClinVar Miner

Submissions for variant NM_002256.4(KISS1):c.268C>G (p.His90Asp)

gnomAD frequency: 0.00578  dbSNP: rs201073751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591689 SCV000707891 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV000961915 SCV001108971 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Mendelics RCV000986506 SCV001135519 likely benign Hypogonadotropic hypogonadism 13 with or without anosmia 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000961915 SCV001851036 benign not provided 2020-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33089319, 20237166, 22230814, 21880801)

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