ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.228C>G (p.Phe76Leu)

dbSNP: rs139719558
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758978 SCV002006602 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001758978 SCV004164091 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CACNA1B: BS1

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