ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) (rs141068211)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275237 SCV000472715 uncertain significance Farber disease 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710620 SCV000840866 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656011 SCV000588287 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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