ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.382+84C>A

gnomAD frequency: 0.32897  dbSNP: rs115973081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988039 SCV001137592 benign Farber lipogranulomatosis 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001709699 SCV001936867 benign not provided 2018-07-17 criteria provided, single submitter clinical testing

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