ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7737G>A (p.Lys2579=)

gnomAD frequency: 0.00192  dbSNP: rs139279302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516324 SCV000614978 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
Invitae RCV001085238 SCV001004130 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001553284 SCV001774130 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848896 SCV002105088 likely benign Hereditary spastic paraplegia 2021-05-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001553284 SCV004184298 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SACS: BP4, BP7

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