ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2551G>T (p.Val851Phe)

gnomAD frequency: 0.00006  dbSNP: rs756890722
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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 RCV000545527 SCV000629461 likely benign Spastic paraplegia 2023-04-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848921 SCV002105015 uncertain significance Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834757 SCV002086717 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-10-09 no assertion criteria provided clinical testing

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