ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.190-5del

dbSNP: rs34695580
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253666 SCV000306137 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401626 SCV000419493 benign Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311146 SCV000419494 benign Autosomal recessive multiple pterygium syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001705341 SCV000729918 benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV001520951 SCV001730174 benign Lethal multiple pterygium syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520951 SCV001806473 benign Lethal multiple pterygium syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579073 SCV001806474 benign Congenital myasthenic syndrome 1A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579074 SCV001806475 benign Myasthenic syndrome, congenital, 1B, fast-channel 2021-07-22 criteria provided, single submitter clinical testing

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