ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.831C>T (p.Thr277=) (rs78677072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179246 SCV000231465 benign not specified 2015-03-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179246 SCV000301634 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000538772 SCV000630165 benign Spongy degeneration of central nervous system 2019-12-31 criteria provided, single submitter clinical testing

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