ClinVar Miner

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

gnomAD frequency: 0.02616  dbSNP: rs3842724
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000307379 SCV000369907 likely benign Autosomal recessive DOPA responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000387514 SCV000483268 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000274394 SCV000483269 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000307379 SCV000563357 benign Autosomal recessive DOPA responsive dystonia 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713848 SCV000844485 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000713848 SCV001943902 benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000307379 SCV001459700 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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