ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2376T>C (p.Asn792=)

gnomAD frequency: 0.00146  dbSNP: rs143601538
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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) RCV000175921 SCV000227495 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000175921 SCV001840439 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054073 SCV002418779 benign Duane-radial ray syndrome 2022-06-04 criteria provided, single submitter clinical testing

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