ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)

gnomAD frequency: 0.00031  dbSNP: rs139007744
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000059801 SCV001001395 likely benign not provided 2023-11-16 criteria provided, single submitter clinical testing
Mendelics RCV000988456 SCV001138179 benign Hypogonadotropic hypogonadism 14 with or without anosmia 2023-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000059801 SCV002525421 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Institute of Human Genetics, University Hospital Muenster RCV004584344 SCV002577931 uncertain significance See cases 2021-11-15 criteria provided, single submitter clinical testing ACMG categories: PP2
CeGaT Center for Human Genetics Tuebingen RCV000059801 SCV004699447 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing WDR11: PP3, PS3:Supporting, BS1, BS2
OMIM RCV000988456 SCV000053523 pathogenic Hypogonadotropic hypogonadism 14 with or without anosmia 2010-10-08 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059801 SCV000091371 not provided not provided no assertion provided not provided
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000988456 SCV004099410 uncertain significance Hypogonadotropic hypogonadism 14 with or without anosmia 2023-10-30 no assertion criteria provided clinical testing

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