ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.424-43T>C

gnomAD frequency: 0.10549  dbSNP: rs894248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001677349 SCV001894292 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796688 SCV002033120 benign Action myoclonus-renal failure syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001677349 SCV005298016 benign not provided criteria provided, single submitter not provided

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