ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.*2937_*2944del

dbSNP: rs361606
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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 RCV000333048 SCV000437482 uncertain significance CEDNIK syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694662 SCV005195309 uncertain significance not provided criteria provided, single submitter not provided

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