ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.295-34T>G

gnomAD frequency: 0.88578  dbSNP: rs11621299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554098 SCV001775267 benign Spastic paraplegia 52, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001696240 SCV001916348 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696240 SCV005297269 benign not provided criteria provided, single submitter not provided

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