ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1199-9C>T

gnomAD frequency: 0.00005  dbSNP: rs529977616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517959 SCV000612504 uncertain significance not specified 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000904927 SCV001049483 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001576544 SCV001803755 likely benign not provided 2019-12-06 criteria provided, single submitter clinical testing

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