ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.390G>A (p.Pro130=) (rs75156807)

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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 RCV000251993 SCV000309285 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275506 SCV000397653 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001087416 SCV000755453 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000634154 SCV001145359 benign not provided 2019-06-05 criteria provided, single submitter clinical testing

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