ClinVar Miner

Submissions for variant NM_000543.4:c.777_778ins8

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409023 SCV000487134 likely pathogenic Niemann-Pick disease, type A 2016-10-11 criteria provided, single submitter clinical testing

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