ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.1543+13G>A

gnomAD frequency: 0.00151  dbSNP: rs200007246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252453 SCV002523652 uncertain significance See cases 2020-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101385 SCV003030914 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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