ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)

gnomAD frequency: 0.00001  dbSNP: rs1399826348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shieh Lab, University of California, San Francisco RCV001376124 SCV001441647 pathogenic Fraser syndrome 1 2020-10-19 no assertion criteria provided research

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