ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1353C>T (p.Ala451=)

gnomAD frequency: 0.00120  dbSNP: rs140110863
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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) RCV000175922 SCV000227496 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945736 SCV001091785 benign Duane-radial ray syndrome 2024-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492753 SCV002802802 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-10-22 criteria provided, single submitter clinical testing

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