ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.438C>T (p.Ser146=)

gnomAD frequency: 0.00025  dbSNP: rs138756386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728248 SCV000855795 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
Invitae RCV000728248 SCV001014433 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000728248 SCV001831839 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000728248 SCV004125344 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ERCC6: BP4, BP7

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