ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1497G>T (p.Thr499=)

gnomAD frequency: 0.00096  dbSNP: rs148435082
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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) RCV000175924 SCV000227498 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959429 SCV001106337 benign Duane-radial ray syndrome 2024-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492754 SCV002803402 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-11-02 criteria provided, single submitter clinical testing

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