ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.720C>T (p.Asp240=)

gnomAD frequency: 0.00001  dbSNP: rs1243280313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002528 SCV001160491 likely benign not specified 2019-05-02 criteria provided, single submitter clinical testing

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