ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro)

gnomAD frequency: 0.00245  dbSNP: rs150549656
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175920 SCV000227494 benign not specified 2014-10-21 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000175920 SCV000258154 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV000870974 SCV001012556 benign Duane-radial ray syndrome 2024-01-22 criteria provided, single submitter clinical testing

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