ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.*707_*720delinsAAAA

dbSNP: rs886049028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004576943 SCV000376659 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342451 SCV000376660 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing

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