ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1401C>T (p.Asp467=) (rs3842724)

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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 RCV000307379 SCV000369907 likely benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387514 SCV000483268 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274394 SCV000483269 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001081163 SCV000563357 benign Dystonia 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713848 SCV000844485 benign not provided 2017-09-12 criteria provided, single submitter clinical testing

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