ClinVar Miner

Submissions for variant NM_022807.5(SNRPN):c.-579+5G>A

gnomAD frequency: 0.13434  dbSNP: rs56684653
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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 RCV000278133 SCV000390104 likely benign Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703674 SCV005211609 likely benign not provided criteria provided, single submitter not provided

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