ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=)

gnomAD frequency: 0.00006  dbSNP: rs756954352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815959 SCV002062731 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077273 SCV002462868 likely benign Hereditary spastic paraplegia 48 2023-05-01 criteria provided, single submitter clinical testing

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