ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)

gnomAD frequency: 0.00006  dbSNP: rs200248814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189469 SCV000243110 likely benign not specified 2017-10-18 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.
Invitae RCV001463485 SCV001667429 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457651 SCV004184829 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTAN1: BS1
Revvity Omics, Revvity Omics RCV003457651 SCV004237724 uncertain significance not provided 2024-01-11 criteria provided, single submitter clinical testing

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