ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2343G>C (p.Leu781=) (rs60270998)

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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 RCV000246046 SCV000309275 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319410 SCV000397631 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549967 SCV000630907 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712996 SCV000843557 benign not provided 2018-05-23 criteria provided, single submitter clinical testing

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