ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.6438C>T (p.Ser2146=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948955 SCV003278145 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002948955 SCV004184861 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CACNA1B: BP4, BP7

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