ClinVar Miner

Submissions for variant NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) (rs201835496)

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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 RCV000144714 SCV000267467 likely pathogenic Kallmann syndrome 3 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000870421 SCV001011918 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
OMIM RCV000144714 SCV000190708 pathogenic Kallmann syndrome 3 2009-01-01 no assertion criteria provided literature only

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