ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)

gnomAD frequency: 0.00019  dbSNP: rs376641545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991662 SCV001143314 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000991662 SCV001248628 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001326079 SCV001517093 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416272 SCV002721763 likely benign Inborn genetic diseases 2018-01-19 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.

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