ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2447G>A (p.Arg816His)

gnomAD frequency: 0.00003  dbSNP: rs747560279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728070 SCV000855597 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485853 SCV002780434 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2021-12-07 criteria provided, single submitter clinical testing

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