ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)

gnomAD frequency: 0.00019  dbSNP: rs2229013
Minimum review status: Collection method:
Minimum conflict level:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490378 SCV000267370 uncertain significance Hypogonadotropic hypogonadism 1 with or without anosmia 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490378 SCV001016274 benign Hypogonadotropic hypogonadism 1 with or without anosmia 2024-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000490378 SCV001141469 uncertain significance Hypogonadotropic hypogonadism 1 with or without anosmia 2019-05-28 criteria provided, single submitter clinical testing

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