ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.138+2T>G

gnomAD frequency: 0.00002  dbSNP: rs377679827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV000477933 SCV001622868 likely pathogenic Spastic paraplegia 52, autosomal recessive 2020-05-19 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477933 SCV000536739 likely pathogenic Spastic paraplegia 52, autosomal recessive 2016-02-11 no assertion criteria provided research

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