ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1278G>A (p.Thr426=) (rs36097848)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000334193 SCV000369910 likely benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334223 SCV000483270 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388765 SCV000483271 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001080741 SCV000563354 benign Dystonia 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000475352 SCV001146180 benign not provided 2018-12-03 criteria provided, single submitter clinical testing

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