ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)

gnomAD frequency: 0.00001  dbSNP: rs768328398
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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 RCV001848555 SCV002105453 uncertain significance Hereditary spastic paraplegia 2017-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543416 SCV002960714 likely benign Intellectual disability, autosomal recessive 42 2022-10-05 criteria provided, single submitter clinical testing

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