ClinVar Miner

Submissions for variant NM_024989.3(PGAP1):c.-94G>A

gnomAD frequency: 0.01160  dbSNP: rs186535521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576563 SCV001803775 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847305 SCV002105475 uncertain significance Hereditary spastic paraplegia 2016-12-28 criteria provided, single submitter clinical testing

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