ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.340-12G>T

gnomAD frequency: 0.00438  dbSNP: rs2064201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153930 SCV000203547 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001558176 SCV001780068 likely benign not provided 2019-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001558176 SCV002457725 benign not provided 2023-07-17 criteria provided, single submitter clinical testing

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