ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1200G>A (p.Ser400=)

gnomAD frequency: 0.00022  dbSNP: rs79302764
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002546005 SCV001092341 benign Townes syndrome 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424488 SCV004139356 benign not provided 2022-03-01 criteria provided, single submitter clinical testing SALL1: BS1, BS2

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