ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp)

dbSNP: rs138891224
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244224 SCV002512610 uncertain significance Duane-radial ray syndrome 2021-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496179 SCV002785880 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2021-09-14 criteria provided, single submitter clinical testing

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