ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2130G>A (p.Thr710=)

gnomAD frequency: 0.01764  dbSNP: rs61737143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530749 SCV000637458 benign Duane-radial ray syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001643036 SCV001857182 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502304 SCV002808404 benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-07-18 criteria provided, single submitter clinical testing

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