ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.615+4G>C (rs112674580)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116707 SCV000306140 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266267 SCV000419485 likely benign Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321310 SCV000419486 likely benign Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116707 SCV000523678 benign not specified 2016-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000116707 SCV000612731 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000545178 SCV000641707 benign Lethal multiple pterygium syndrome 2018-01-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116707 SCV000150676 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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