ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) (rs771587252)

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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 RCV000288185 SCV000419451 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347779 SCV000419452 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000642120 SCV000763773 likely benign Lethal multiple pterygium syndrome 2017-10-27 criteria provided, single submitter clinical testing

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