ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)

gnomAD frequency: 0.00002  dbSNP: rs554772608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848473 SCV002104807 uncertain significance Hereditary spastic paraplegia 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543403 SCV003275301 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-07-03 criteria provided, single submitter clinical testing

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