ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.906G>A (p.Thr302=) (rs371394875)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320149 SCV000402022 uncertain significance Spongy degeneration of central nervous system 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000320149 SCV001030521 likely benign Spongy degeneration of central nervous system 2019-12-31 criteria provided, single submitter clinical testing

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