ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) (rs150638770)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000246828 SCV000612732 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724411 SCV000231471 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277508 SCV000419479 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314306 SCV000419480 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550929 SCV000641710 benign Lethal multiple pterygium syndrome 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246828 SCV000306141 likely benign not specified criteria provided, single submitter clinical testing

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