ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.2713G>A (p.Glu905Lys)

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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 RCV002620640 SCV003510378 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070600 SCV003878109 uncertain significance not specified 2023-03-06 criteria provided, single submitter clinical testing The c.2713G>A (p.E905K) alteration is located in exon 19 (coding exon 19) of the CACNA1B gene. This alteration results from a G to A substitution at nucleotide position 2713, causing the glutamic acid (E) at amino acid position 905 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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