ClinVar Miner

Submissions for variant NM_000100.4(CSTB):c.*19C>T

gnomAD frequency: 0.00013  dbSNP: rs6384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576989 SCV001804291 likely benign not provided 2017-12-06 criteria provided, single submitter clinical testing

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