ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)

dbSNP: rs1284316063
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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) RCV000596097 SCV000706476 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000668240 SCV000792813 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-07-17 criteria provided, single submitter clinical testing

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