ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.369T>C (p.Gly123=)

gnomAD frequency: 0.00474  dbSNP: rs182431279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710607 SCV000840850 benign not provided 2018-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085308 SCV001002567 benign Hereditary spastic paraplegia 48 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000710607 SCV002759025 likely benign not provided 2022-02-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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