ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) (rs140191388)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178486 SCV000171852 benign not specified 2013-10-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178486 SCV000230573 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing
Invitae RCV001084995 SCV000633784 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000555111 SCV001145805 benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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