ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)

dbSNP: rs1466130502
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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 RCV001848287 SCV002106013 uncertain significance Hereditary spastic paraplegia 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077333 SCV002417727 likely benign Spastic paraplegia 2023-10-04 criteria provided, single submitter clinical testing

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