ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4899A>T (p.Val1633=)

gnomAD frequency: 0.00001  dbSNP: rs146419598
Minimum review status: Collection method:
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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
Athena Diagnostics RCV001289175 SCV001476824 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001409442 SCV001611464 likely benign Spastic paraplegia 2024-03-13 criteria provided, single submitter clinical testing

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