ClinVar Miner

Submissions for variant NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) (rs147436181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455242 SCV000540312 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
OMIM RCV000032921 SCV000056693 risk factor Hypogonadotropic hypogonadism 16 with or without anosmia 2012-08-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059788 SCV000091358 not provided not provided no assertion provided not provided

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