ClinVar Miner

Submissions for variant NM_001127221.2(CACNA1A):c.5628+1G>A

dbSNP: rs1555736262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658821 SCV000780617 likely pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing

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