ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2955C>T (p.Asn985=)

gnomAD frequency: 0.00001  dbSNP: rs1490051769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199075 SCV002491281 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing

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