ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=)

gnomAD frequency: 0.00045  dbSNP: rs374511141
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720234 SCV000526432 benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Invitae RCV000537566 SCV000656731 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318452 SCV000851377 likely benign Inborn genetic diseases 2016-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc RCV000437458 SCV001880053 benign not specified 2020-12-22 criteria provided, single submitter clinical testing

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