ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)

gnomAD frequency: 0.00016  dbSNP: rs371595464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725882 SCV000340229 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000725882 SCV000521006 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20837964, 27884173)
Invitae RCV001069865 SCV001235062 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725882 SCV001477015 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing

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