ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2568G>A (p.Ser856=)

gnomAD frequency: 0.00013  dbSNP: rs374177752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194501 SCV000246844 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000905282 SCV001049859 likely benign not provided 2023-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905282 SCV004700883 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CAMTA1: BP4, BP7

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