ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.292A>G (p.Met98Val) (rs28643388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224272 SCV000281416 benign not provided 2014-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, PreventionGenetics RCV000246370 SCV000309278 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001088967 SCV000630909 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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