ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)

gnomAD frequency: 0.00007  dbSNP: rs375214976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092148 SCV001248525 likely benign not provided 2019-09-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847153 SCV002104797 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069609 SCV002437540 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-01-31 criteria provided, single submitter clinical testing

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