ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1948+1G>A (rs745712829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455181 SCV000538560 uncertain significance not specified 2016-10-20 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: LOF not established disease mechanism for MH
Gharavi Laboratory,Columbia University RCV000782247 SCV000920737 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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