ClinVar Miner

Submissions for variant NM_006594.5(AP4B1):c.-77+5G>A

gnomAD frequency: 0.00149  dbSNP: rs28364563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847494 SCV002104906 uncertain significance Hereditary spastic paraplegia 2017-10-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691447 SCV005186831 uncertain significance not provided criteria provided, single submitter not provided

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