ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)

gnomAD frequency: 0.00038  dbSNP: rs137852517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247315 SCV002516869 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000010696 SCV003507208 benign Hypogonadotropic hypogonadism 1 with or without anosmia 2023-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436922 SCV004166053 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ANOS1: BP4, BS2
OMIM RCV000010696 SCV000030922 pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia 2006-10-20 no assertion criteria provided literature only

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