ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) (rs80248061)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203210 SCV000257791 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288048 SCV000397636 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000871312 SCV001012943 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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