ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1779G>T (p.Pro593=)

dbSNP: rs147254025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175923 SCV000227497 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959428 SCV001106336 benign Duane-radial ray syndrome 2024-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500481 SCV002811446 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-11-02 criteria provided, single submitter clinical testing

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