ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)

gnomAD frequency: 0.00128  dbSNP: rs80242901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862303 SCV001002789 benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-02-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849159 SCV002104794 likely benign Hereditary spastic paraplegia 2017-05-29 criteria provided, single submitter clinical testing

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