ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448702 SCV001651801 likely benign Spastic paraplegia 2020-07-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507818 SCV001713618 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing

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