ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1689C>T (p.Ile563=)

gnomAD frequency: 0.00011  dbSNP: rs201030352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861752 SCV001002147 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000861752 SCV001773770 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849149 SCV002105796 likely benign Hereditary spastic paraplegia 2019-05-01 criteria provided, single submitter clinical testing

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