ClinVar Miner

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

gnomAD frequency: 0.00161  dbSNP: rs140191388
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Total submissions: 8
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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.
Eurofins Ntd Llc (ga) RCV000178486 SCV000230573 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084995 SCV000633784 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000555111 SCV001145805 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808377 SCV002056690 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345441 SCV002653850 likely benign Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000555111 SCV004156421 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SPTAN1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000555111 SCV005227599 likely benign not provided criteria provided, single submitter not provided

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