ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2544A>G (p.Gln848=) (rs45459896)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250989 SCV000309276 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354429 SCV000397629 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001088388 SCV000630908 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000525845 SCV001145357 benign not provided 2019-07-12 criteria provided, single submitter clinical testing

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