ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)

gnomAD frequency: 0.00046  dbSNP: rs139107571
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878895 SCV001021882 likely benign Intellectual disability, autosomal recessive 42 2024-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847106 SCV002105459 likely benign Hereditary spastic paraplegia 2019-11-01 criteria provided, single submitter clinical testing

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