ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1452C>T (p.Asp484=)

gnomAD frequency: 0.00001  dbSNP: rs762734699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261583 SCV000337196 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
Invitae RCV000261583 SCV001681362 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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