ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.798C>T (p.Pro266=)

gnomAD frequency: 0.00004  dbSNP: rs769573100
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476054 SCV000560140 likely benign not provided 2023-04-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848832 SCV002105804 uncertain significance Hereditary spastic paraplegia 2020-02-01 criteria provided, single submitter clinical testing

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