ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)

dbSNP: rs574272317
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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) RCV000176145 SCV000227753 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763654 SCV000894534 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000176145 SCV003524483 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing

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