ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.570A>G (p.Thr190=)

gnomAD frequency: 0.00879  dbSNP: rs79732643
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883726 SCV001027055 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000883726 SCV002006764 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883726 SCV005224886 likely benign not provided criteria provided, single submitter not provided

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