ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV003228698 SCV003925456 not provided Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 03-21-2022 by GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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