ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser)

dbSNP: rs886042655
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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) RCV000260044 SCV000335739 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000664624 SCV000788620 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-12-29 criteria provided, single submitter clinical testing

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