ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.*515_*522del

dbSNP: rs371833796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311933 SCV000437431 uncertain significance CEDNIK syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311933 SCV000437433 uncertain significance CEDNIK syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311933 SCV000437434 uncertain significance CEDNIK syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694658 SCV005195305 uncertain significance not provided criteria provided, single submitter not provided

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